XYY syndrome
Encyclopedia
XYY syndrome is an aneuploidy
(abnormal number) of the sex chromosomes in which a human
male
receives an extra Y-chromosome
, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype
. This condition is usually asymptomatic and affects 1 in 1000 male births.
Some medical geneticists question whether the term "syndrome
" is appropriate for this condition because its phenotype
is normal and the vast majority (an estimated 97% in the UK) of 47,XYY males do not know their karyotype
.
47,XYY boys have an increased growth velocity during earliest childhood, with an average final height approximately 7 cm (3 in) above expected final height. The increased gene dosage of three X/Y chromosome pseudoautosomal region
(PAR1) SHOX
genes has been postulated as a cause of the increased stature seen in all three sex chromosome trisomies: 47,XXX, 47,XXY, and 47,XYY.
Severe acne
was noted in a very few early case reports, but dermatologists specializing in acne now doubt the existence of a relationship with 47,XYY.
Testosterone
levels (prenatally and postnatally) are normal in 47,XYY males. Most 47,XYY males have normal sexual development and usually have normal fertility.
(in up to 50%), and delayed speech and language skills. In comparison, a national survey of US children conducted in 2004 for the CDC
found that 10% of all boys had a learning disability.
As with 47,XXY
boys and 47,XXX
girls, IQ scores of 47,XYY boys average 10–15 points below their siblings. For context, this amount of variation—an average difference of 12 IQ points—often occurs naturally between children in the same family, although a difference of 15 points is a full standard deviation
on modern IQ tests.
The Denver Family Development Study led by Arthur Robinson found that in 14 prenatally diagnosed
47,XYY boys (from high socioeconomic status
families), IQ scores available for 6 boys ranged from 100–147 with a mean of 120. For the 11 of 14 boys with siblings, in 9 instances their siblings were stronger academically, but in one case the subject was performing equal to, and in another case superior to, his siblings.
Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected boys and men, are not unique to 47,XYY and are managed no differently than in 46,XY males. Aggression is not seen more frequently in 47,XYY males.
cells. An error in chromosome separation during anaphase II (of meiosis II) called nondisjunction
can result in sperm cells with an extra copy of the Y-chromosome. If one of these atypical sperm cells contributes to the genetic makeup of a child, the child will have an extra Y-chromosome in each of the body's cells.
In some cases, the addition of an extra Y-chromosome results from nondisjunction during cell division during a post-zygotic mitosis
in early embryonic development. This can produce 46,XY/47,XYY mosaic
s.
published the discovery by cytogeneticist
s Joe Hin Tjio
and Albert Levan
at Lund University
in Sweden
that the normal number of chromosomes in diploid
human cells was 46—not 48 as had been believed for the preceding thirty years. In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, 45,X, and 47,XXX in 1959. Even the much less common 48,XXYY
had been discovered in 1960, a year before 47,XYY.
Screening for those X chromosome
aneuploidies was possible by noting the presence or absence of "female" sex chromatin bodies (Barr bodies
) in the nuclei
of interphase
cells in buccal smears, a technique developed a decade before the first reported sex chromosome aneuploidy. An analogous technique to screen for Y-chromosome aneuploidies by noting supernumerary "male" sex chromatin bodies was not developed until 1970, a decade after the first reported sex chromosome aneuploidy.
The first published report of a man with a 47,XYY karyotype was by internist and cytogeneticist Avery Sandberg
and colleagues at Roswell Park Memorial Institute
in Buffalo, New York
in 1961. It was an incidental finding in a normal 44-year-old, 6 ft. [183 cm] tall man of average intelligence who was karyotyped because he had a daughter with Down syndrome
. Only a dozen isolated 47,XYY cases were reported in the medical literature in the four years following the first report by Sandberg.
Then, in December 1965 and March 1966, Nature
and The Lancet
published the first preliminary reports by British cytogeneticist Patricia Jacobs
and colleagues at the MRC Human Genetics Unit
at Western General Hospital
in Edinburgh
of a chromosome survey of 315 male patients at The State Hospital
outside Carstairs
, Lanarkshire
—Scotland
’s only special security hospital for the developmentally disabled
—that found nine patients, ages 17 to 36, averaging almost 6 ft. in height (avg. 5'11", range: 5'7" to 6'2"), had a 47,XYY karyotype, and mischaracterized them as aggressive and violent criminals. Over the next decade, almost all published XYY studies were on height-selected, institutionalized XYY males.
In January 1968 and March 1968, The Lancet
and Science
published the first U.S. reports of tall, institutionalized XYY males by Mary Telfer, a biochemist
, and colleagues at the Elwyn Institute
. Telfer found five tall, developmentally disabled XYY boys and men in hospitals and penal institutions in Pennsylvania
, and since four of the five had at least moderate facial acne
, jumped to the erroneous conclusion that acne was a defining characteristic of XYY males. After learning that convicted mass murderer Richard Speck
had been karyotyped, Telfer not only incorrectly assumed the acne-scarred Speck was XYY, but leapt to the egregiously false conclusion that Speck was the archetypical
XYY male—or "supermale" as Telfer referred to XYY males outside of peer-reviewed scientific journals.
In April 1968, The New York Times
—using Telfer as a main source—introduced the XYY genetic condition to the general public in a three-part series on consecutive days that began with a Sunday front-page story about the planned use of the condition as a mitigating factor in two murder trials in Paris
and Melbourne
—and falsely reported that Richard Speck was an XYY male and that the condition would be used in an appeal of his murder conviction.Getty displayed a letter of Sept. 26, 1966, relating that photographic evidence of 18 cells from Speck's blood showed no chromosome abnormality. He also exhibited a letter of last July 3, indicating that 100 of 101 cells in a sample of Speck's blood studied after the original tests showed the normal 46 chromosomes. The other cell had 45, regarded by the Vanderbilt investigators as having no significance.—article by Vanderbilt University
endocrinologist and geneticist Eric Engel, who performed two confidential chromosome analyses of Speck in September 1966 and June 1968. Based on mischaracterizations of XYY males as aggressive and violent criminals in the December 1965 and March 1966 preliminary reports by Jacobs, et al., Engel had made an unsolicited request in August 1966 to Speck's appointed defense attorney, Cook County Public Defender
Gerald W. Getty, to confidentially karyotype Speck—which was repeated after false news reports in April 1968 that Speck was XYY. The series was echoed the following week by articles—again using Telfer as a main source—in Time
and Newsweek
, and six months later in The New York Times Magazine
.
In December 1968, the Journal of Medical Genetics
published the first XYY review article—by Michael Court Brown, director of the MRC Human Genetics Unit—which reported no overrepresentation of XYY males in nationwide chromosome surveys of prisons and hospitals for the developmentally disabled and mentally ill in Scotland, and concluded that studies confined to institutionalized XYY males may be guilty of selection bias
, and that long-term longitudinal
prospective
studies of newborn XYY boys were needed.
In May 1969, at the annual meeting of the American Psychiatric Association
, Telfer and her Elwyn Institute colleagues reported that case studies of the institutionalized XYY and XXY males they had found convinced them that XYY males had been falsely stigmatized and that their behavior may not be significantly different from chromosomally normal 46,XY males.
In June 1969, the National Institute of Mental Health
(NIMH) Center for Studies of Crime and Delinquency held a two-day XYY conference in Chevy Chase, Maryland
. In December 1969, with a grant from the NIMH Center for Studies of Crime and Delinquency, cytogeneticist Digamber Borgaonkar at Johns Hopkins Hospital
began a chromosome survey of (predominantly African-American) boys ages 8 to 18 in all Maryland
institutions for delinquent, neglected, or mentally ill juveniles, which was suspended from February–May 1970 due to an American Civil Liberties Union
(ACLU) lawsuit about the lack of informed consent. Concurrently, through 1974, psychologist John Money
at Johns Hopkins Hospital experimented on thirteen XYY boys and men (ages 15 to 37) in an unsuccessful attempt to treat their history of behavior problems by chemical castration
using high-dose Depo-Provera—with side-effects of weight gain (avg. 26 lbs.) and suicide.
in Stockholm
first reported intense fluorescence
of the A
T
-rich distal half of the long arm of the Y chromosome in the nuclei of metaphase
cells treated with quinacrine
mustard. In April 1970, Peter Pearson and Martin Bobrow at the MRC
Population Genetics Unit in Oxford
and Canino Vosa at the University of Oxford
reported fluorescent "male" sex chromatin bodies in the nuclei of interphase cells in buccal smears treated with quinacrine dihydrochloride, which could be used to screen for Y chromosome aneuploidies like 47,XYY.
In June 1970, The XYY Man
was published—the first of seven Kenneth Royce
spy novels whose fictional tall, intelligent, nonviolent XYY hero was a reformed expert cat burglar recruited by British intelligence for dangerous assignments—and later adapted into a thirteen-episode British summer television series broadcast in 1976 and 1977. In other fictional television works, a January 1971 episode "By the Pricking of My Thumbs ..." of the British science fiction TV series Doomwatch
featured a 16-year-old XYY boy expelled from school because of his genetic condition, a November 1993 episode "Born Bad" of the American police procedural TV series Law & Order
portrayed a 14-year-old XYY sociopathic murderer, and the May 2007 season finale episode "Born To Kill" of the American police procedural TV series CSI: Miami
depicted a 34-year-old XYY serial killer. The false stereotype of XYY boys and men as violent criminals has also been used as a plot device in the horror films Il gatto a nove code in February 1971 (dubbed into English as The Cat o' Nine Tails
in May 1971) and Alien³ in May 1992.
In December 1970, at the annual meeting of the American Association for the Advancement of Science
(AAAS), its retiring president, geneticist H. Bentley Glass
, cheered by the legalization of abortion in New York
, envisioned a future where pregnant women would be required by the government to abort XYY "sex deviants". Mischaracterization of the XYY genetic condition was quickly incorporated into high school biology textbooks and medical school psychiatry textbooks, where misinformation still persists decades later.
In the late 1960s and early 1970s, screening of consecutive newborns for sex chromosome abnormalities was undertaken at seven centers worldwide: in Denver (Jan 1964–1974), Edinburgh
(Apr 1967–Jun 1979), New Haven (Oct 1967–Sep 1968), Toronto
(Oct 1967–Sep 1971), Aarhus
(Oct 1969–Jan 1974, Oct 1980–Jan 1989), Winnipeg
(Feb 1970–Sep 1973), and Boston
(Apr 1970–Nov 1974). The Boston study, led by Harvard Medical School
child psychiatrist Stanley Walzer at Children's Hospital
, was unique among the seven newborn screening studies in that it only screened newborn boys (non-private-ward newborn boys at the Boston Hospital for Women
) and was funded in part by grants from the NIMH Center for Studies of Crime and Delinquency.
In 1973, child psychiatrist Herbert Schreier at Children’s Hospital told Harvard Medical School microbiologist Jon Beckwith
of Science for the People
that he thought Walzer’s Boston XYY study was unethical; Science for the People investigated the study and filed a complaint with Harvard Medical School about the study in March 1974. In November 1974, when the Harvard Medical School committee on medical research recommended that the study continue, Science for the People went public with their objections to the Boston XYY study in a press conference and a New Scientist
article alleging inadequate informed consent, a lack of benefit (since no specific treatment was available) but substantial risk (by stigmatization with a false stereotype) to the subjects, and that the unblinded experimental design could not produce meaningful results regarding the subjects' behavior. Changes to informed consent procedures and pressure from additional advocacy groups, including the Children's Defense Fund
, led to the 1975 discontinuation of the last active U.S. newborn screening programs for sex chromosome abnormalities in Boston and Denver.
In August 1976, Science published a retrospective cohort study
by Educational Testing Service
psychologist Herman Witkin and colleagues that screened the tallest 16% of men (over 6'0" in height) born in Copenhagen
from 1944–1947 for XXY and XYY karyotypes, and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be related to the lower intelligence of those with criminal convictions, but found no evidence that XXY or XYY men were inclined to be aggressive or violent.
sponsored five international conferences in June 1974, November 1977, May 1981, June 1984, and June 1989 and published articles from the conferences in book form in 1979, 1982, 1986, and 1991 from seven longitudinal prospective studies on the development of over 300 children and young adults with sex chromosome abnormalities identified in the screening of almost 200,000 consecutive births in hospitals in Denver, Edinburgh, New Haven, Toronto, Aarhus, Winnipeg, and Boston from 1964 to 1975. These seven studies—the only unbiased studies of unselected individuals with sex chromosome abnormalities—have replaced the older, biased studies of institutionalized individuals in understanding the development of individuals with sex chromosome abnormalities.
In May 1997, Nature Genetics
published the discovery by Ercole Rao and colleagues of the X/Y chromosome pseudoautosomal region
(PAR1) SHOX
gene, haploinsufficiency
of which leads to short stature in Turner syndrome
(45,X). It was subsequently postulated that the increased gene dosage of three SHOX genes leads to tall stature in the sex chromosome trisomies 47,XXX, 47,XXY, and 47,XYY. In September 2007, the American Journal of Medical Genetics published a report by Marquis Vawter and colleagues that the increased gene dosage of three pseudoautosomal region PAR1 GTPBP6
genes in Klinefelter's syndrome (47,XXY) was correlated with decreased verbal IQ.
Aneuploidy
Aneuploidy is an abnormal number of chromosomes, and is a type of chromosome abnormality. An extra or missing chromosome is a common cause of genetic disorders . Some cancer cells also have abnormal numbers of chromosomes. Aneuploidy occurs during cell division when the chromosomes do not separate...
(abnormal number) of the sex chromosomes in which a human
Human
Humans are the only living species in the Homo genus...
male
Male
Male refers to the biological sex of an organism, or part of an organism, which produces small mobile gametes, called spermatozoa. Each spermatozoon can fuse with a larger female gamete or ovum, in the process of fertilization...
receives an extra Y-chromosome
Y chromosome
The Y chromosome is one of the two sex-determining chromosomes in most mammals, including humans. In mammals, it contains the gene SRY, which triggers testis development if present. The human Y chromosome is composed of about 60 million base pairs...
, giving a total of 47 chromosomes instead of the more usual 46. This produces a 47,XYY karyotype
Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of an eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.p28...
. This condition is usually asymptomatic and affects 1 in 1000 male births.
Some medical geneticists question whether the term "syndrome
Syndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
" is appropriate for this condition because its phenotype
Phenotype
A phenotype is an organism's observable characteristics or traits: such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior...
is normal and the vast majority (an estimated 97% in the UK) of 47,XYY males do not know their karyotype
Karyotype
A karyotype is the number and appearance of chromosomes in the nucleus of an eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism.p28...
.
Physical traits
Most often, the extra Y-chromosome causes no unusual physical features or medical problems. Since XYY is not characterized by distinct physical features, the condition is usually detected only during genetic analysis for another reason.47,XYY boys have an increased growth velocity during earliest childhood, with an average final height approximately 7 cm (3 in) above expected final height. The increased gene dosage of three X/Y chromosome pseudoautosomal region
Pseudoautosomal region
The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes.The pseudoautosomal regions get their name because any genes located within them are inherited just like any autosomal genes...
(PAR1) SHOX
Short stature homeobox gene
Short stature homeobox gene or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy .-Pathology:...
genes has been postulated as a cause of the increased stature seen in all three sex chromosome trisomies: 47,XXX, 47,XXY, and 47,XYY.
Severe acne
Acne vulgaris
Acne vulgaris is a common human skin disease, characterized by areas of skin with seborrhea , comedones , papules , pustules , Nodules and possibly scarring...
was noted in a very few early case reports, but dermatologists specializing in acne now doubt the existence of a relationship with 47,XYY.
Testosterone
Testosterone
Testosterone is a steroid hormone from the androgen group and is found in mammals, reptiles, birds, and other vertebrates. In mammals, testosterone is primarily secreted in the testes of males and the ovaries of females, although small amounts are also secreted by the adrenal glands...
levels (prenatally and postnatally) are normal in 47,XYY males. Most 47,XYY males have normal sexual development and usually have normal fertility.
Behavioral characteristics
47,XYY boys have an increased risk of learning difficultiesLearning disability
Learning disability is a classification including several disorders in which a person has difficulty learning in a typical manner, usually caused by an unknown factor or factors...
(in up to 50%), and delayed speech and language skills. In comparison, a national survey of US children conducted in 2004 for the CDC
Centers for Disease Control and Prevention
The Centers for Disease Control and Prevention are a United States federal agency under the Department of Health and Human Services headquartered in Druid Hills, unincorporated DeKalb County, Georgia, in Greater Atlanta...
found that 10% of all boys had a learning disability.
As with 47,XXY
Klinefelter's syndrome
Klinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
boys and 47,XXX
Triple X syndrome
Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...
girls, IQ scores of 47,XYY boys average 10–15 points below their siblings. For context, this amount of variation—an average difference of 12 IQ points—often occurs naturally between children in the same family, although a difference of 15 points is a full standard deviation
Standard deviation
Standard deviation is a widely used measure of variability or diversity used in statistics and probability theory. It shows how much variation or "dispersion" there is from the average...
on modern IQ tests.
The Denver Family Development Study led by Arthur Robinson found that in 14 prenatally diagnosed
Prenatal diagnosis
Prenatal diagnosis or prenatal screening is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic diseases and other conditions, such as spina bifida, cleft palate,...
47,XYY boys (from high socioeconomic status
Socioeconomic status
Socioeconomic status is an economic and sociological combined total measure of a person's work experience and of an individual's or family’s economic and social position in relation to others, based on income, education, and occupation...
families), IQ scores available for 6 boys ranged from 100–147 with a mean of 120. For the 11 of 14 boys with siblings, in 9 instances their siblings were stronger academically, but in one case the subject was performing equal to, and in another case superior to, his siblings.
Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected boys and men, are not unique to 47,XYY and are managed no differently than in 46,XY males. Aggression is not seen more frequently in 47,XYY males.
Cause
47,XYY is not inherited, but usually occurs as a random event during the formation of spermSpermatozoon
A spermatozoon is a motile sperm cell, or moving form of the haploid cell that is the male gamete. A spermatozoon joins an ovum to form a zygote...
cells. An error in chromosome separation during anaphase II (of meiosis II) called nondisjunction
Nondisjunction
Nondisjunction is the failure of chromosome pairs to separate properly during meiosis stage 1 or stage 2. This could arise from a failure of homologous chromosomes to separate in meiosis I, or the failure of sister chromatids to separate during meiosis II or mitosis. The result of this error is a...
can result in sperm cells with an extra copy of the Y-chromosome. If one of these atypical sperm cells contributes to the genetic makeup of a child, the child will have an extra Y-chromosome in each of the body's cells.
In some cases, the addition of an extra Y-chromosome results from nondisjunction during cell division during a post-zygotic mitosis
Mitosis
Mitosis is the process by which a eukaryotic cell separates the chromosomes in its cell nucleus into two identical sets, in two separate nuclei. It is generally followed immediately by cytokinesis, which divides the nuclei, cytoplasm, organelles and cell membrane into two cells containing roughly...
in early embryonic development. This can produce 46,XY/47,XYY mosaic
Mosaic (genetics)
In genetic medicine, a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one individual who has developed from a single fertilized egg...
s.
Incidence
About 1 in 1,000 boys are born with a 47,XYY karyotype. The incidence of 47,XYY is not affected by advanced paternal or maternal age.1960s
In April 1956, HereditasHereditas
Hereditas is a scientific journal concerning genetics. It has been published since 1920 by Mendelska sällskapet i Lund ....
published the discovery by cytogeneticist
Cytogenetics
Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. It includes routine analysis of G-Banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ...
s Joe Hin Tjio
Joe Hin Tjio
Joe Hin Tjio , was a cytogeneticist renowned as the first person to recognize the normal number of human chromosomes. This epochal event occurred on December 22, 1955 at the Institute of Genetics of the University of Lund in Sweden, where Tjio was a visiting scientist.-Early life:Tjio was born to...
and Albert Levan
Albert Levan
Albert Levan was a Swedish botanist and geneticist.Albert Levan is best known today for co-authoring the report in 1956 that humans had forty-six chromosomes...
at Lund University
Lund University
Lund University , located in the city of Lund in the province of Scania, Sweden, is one of northern Europe's most prestigious universities and one of Scandinavia's largest institutions for education and research, frequently ranked among the world's top 100 universities...
in Sweden
Sweden
Sweden , officially the Kingdom of Sweden , is a Nordic country on the Scandinavian Peninsula in Northern Europe. Sweden borders with Norway and Finland and is connected to Denmark by a bridge-tunnel across the Öresund....
that the normal number of chromosomes in diploid
Ploidy
Ploidy is the number of sets of chromosomes in a biological cell.Human sex cells have one complete set of chromosomes from the male or female parent. Sex cells, also called gametes, combine to produce somatic cells. Somatic cells, therefore, have twice as many chromosomes. The haploid number is...
human cells was 46—not 48 as had been believed for the preceding thirty years. In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, 45,X, and 47,XXX in 1959. Even the much less common 48,XXYY
48,XXYY syndrome
48,XXYY syndrome is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells usually contain two sex chromosomes, one from the mother and one from the father. Usually, females have two X chromosomes and males have one X and one Y chromosome . The appearance of at...
had been discovered in 1960, a year before 47,XYY.
Screening for those X chromosome
X chromosome
The X chromosome is one of the two sex-determining chromosomes in many animal species, including mammals and is common in both males and females. It is a part of the XY sex-determination system and X0 sex-determination system...
aneuploidies was possible by noting the presence or absence of "female" sex chromatin bodies (Barr bodies
Barr body
A Barr body is the inactive X chromosome in a female somatic cell, rendered inactive in a process called lyonization, in those species in which sex is determined by the presence of the Y or W chromosome rather than the diploidy of the X or Z...
) in the nuclei
Cell nucleus
In cell biology, the nucleus is a membrane-enclosed organelle found in eukaryotic cells. It contains most of the cell's genetic material, organized as multiple long linear DNA molecules in complex with a large variety of proteins, such as histones, to form chromosomes. The genes within these...
of interphase
Interphase
Interphase is the phase of the cell cycle in which the cell spends the majority of its time and performs the majority of its purposes including preparation for cell division. In preparation for cell division, it increases its size and makes a copy of its DNA...
cells in buccal smears, a technique developed a decade before the first reported sex chromosome aneuploidy. An analogous technique to screen for Y-chromosome aneuploidies by noting supernumerary "male" sex chromatin bodies was not developed until 1970, a decade after the first reported sex chromosome aneuploidy.
The first published report of a man with a 47,XYY karyotype was by internist and cytogeneticist Avery Sandberg
Avery Sandberg
Dr. Avery A. Sandberg and colleagues in Buffalo, New York published the first report of a man with a 47,XYY karyotype in 1961.-Selected Books:* The Y Chromosome, Part B: Clinical Aspects of Y Chromosome Abnormalities ISBN 0-471-84767-4...
and colleagues at Roswell Park Memorial Institute
Roswell Park Cancer Institute
The Roswell Park Cancer Institute is a comprehensive cancer research and treatment center located in Buffalo, New York. Founded in 1898 by Dr. Roswell Park, it was the first dedicated medical facility for cancer treatment and research in the United States. The facility is involved in drug...
in Buffalo, New York
Buffalo, New York
Buffalo is the second most populous city in the state of New York, after New York City. Located in Western New York on the eastern shores of Lake Erie and at the head of the Niagara River across from Fort Erie, Ontario, Buffalo is the seat of Erie County and the principal city of the...
in 1961. It was an incidental finding in a normal 44-year-old, 6 ft. [183 cm] tall man of average intelligence who was karyotyped because he had a daughter with Down syndrome
Down syndrome
Down syndrome, or Down's syndrome, trisomy 21, is a chromosomal condition caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British physician who described the syndrome in 1866. The condition was clinically described earlier in the 19th...
. Only a dozen isolated 47,XYY cases were reported in the medical literature in the four years following the first report by Sandberg.
Then, in December 1965 and March 1966, Nature
Nature (journal)
Nature, first published on 4 November 1869, is ranked the world's most cited interdisciplinary scientific journal by the Science Edition of the 2010 Journal Citation Reports...
and The Lancet
The Lancet
The Lancet is a weekly peer-reviewed general medical journal. It is one of the world's best known, oldest, and most respected general medical journals...
published the first preliminary reports by British cytogeneticist Patricia Jacobs
Patricia Jacobs
Patricia Ann Jacobs FRS FMedSci is a British geneticist, fellow of the Royal society. She is Professor of Human Genetics in University of Southampton at Salisbury District Hospital...
and colleagues at the MRC Human Genetics Unit
MRC Human Genetics Unit
The Medical Research Council Human Genetics Unit is situated at the Western General Hospital in Edinburgh. It is one of the largest MRC research establishments, housing over two hundred scientists, support staff, research fellows, PhD students, and visiting workers.-Directors:* 1956 - 1969 Dr...
at Western General Hospital
Western General Hospital
The Western General Hospital , at Crewe Road, Edinburgh, Scotland is part of NHS Lothian, a Heath Board which provides a comprehensive range of adult and paediatric care to the people of Edinburgh, the Lothians and beyond.It is one of the main teaching hospitals affiliated to the University of...
in Edinburgh
Edinburgh
Edinburgh is the capital city of Scotland, the second largest city in Scotland, and the eighth most populous in the United Kingdom. The City of Edinburgh Council governs one of Scotland's 32 local government council areas. The council area includes urban Edinburgh and a rural area...
of a chromosome survey of 315 male patients at The State Hospital
State Hospital for Scotland and Northern Ireland
The State Hospital for Scotland and Northern Ireland is a psychiatric hospital providing care and treatment in conditions of high security for around 140 patients from Scotland and Northern Ireland who need to be detained in hospital under conditions of special security that can only be provided...
outside Carstairs
Carstairs
The name Carstairs refers to a pair of villages located some 4–5 miles east of the town of Lanark in the administrative region of South Lanarkshire in southern Scotland....
, Lanarkshire
Lanarkshire
Lanarkshire or the County of Lanark ) is a Lieutenancy area, registration county and former local government county in the central Lowlands of Scotland...
—Scotland
Scotland
Scotland is a country that is part of the United Kingdom. Occupying the northern third of the island of Great Britain, it shares a border with England to the south and is bounded by the North Sea to the east, the Atlantic Ocean to the north and west, and the North Channel and Irish Sea to the...
’s only special security hospital for the developmentally disabled
Developmental disability
Developmental disability is a term used in the United States and Canada to describe lifelong disabilities attributable to mental or physical impairments, manifested prior to age 18. It is not synonymous with "developmental delay" which is often a consequence of a temporary illness or trauma during...
—that found nine patients, ages 17 to 36, averaging almost 6 ft. in height (avg. 5'11", range: 5'7" to 6'2"), had a 47,XYY karyotype, and mischaracterized them as aggressive and violent criminals. Over the next decade, almost all published XYY studies were on height-selected, institutionalized XYY males.
In January 1968 and March 1968, The Lancet
The Lancet
The Lancet is a weekly peer-reviewed general medical journal. It is one of the world's best known, oldest, and most respected general medical journals...
and Science
Science (journal)
Science is the academic journal of the American Association for the Advancement of Science and is one of the world's top scientific journals....
published the first U.S. reports of tall, institutionalized XYY males by Mary Telfer, a biochemist
Biochemist
Biochemists are scientists who are trained in biochemistry. Typical biochemists study chemical processes and chemical transformations in living organisms. The prefix of "bio" in "biochemist" can be understood as a fusion of "biological chemist."-Role:...
, and colleagues at the Elwyn Institute
Elwyn Inc.
Elwyn, founded in 1852, is one of the oldest and largest care facilities in the country serving children and adults with a wide range of physical, developmental, sensory , and emotional disabilities, as well as those with mental illness, those with disabilities due to age, and those who are...
. Telfer found five tall, developmentally disabled XYY boys and men in hospitals and penal institutions in Pennsylvania
Pennsylvania
The Commonwealth of Pennsylvania is a U.S. state that is located in the Northeastern and Mid-Atlantic regions of the United States. The state borders Delaware and Maryland to the south, West Virginia to the southwest, Ohio to the west, New York and Ontario, Canada, to the north, and New Jersey to...
, and since four of the five had at least moderate facial acne
Acne vulgaris
Acne vulgaris is a common human skin disease, characterized by areas of skin with seborrhea , comedones , papules , pustules , Nodules and possibly scarring...
, jumped to the erroneous conclusion that acne was a defining characteristic of XYY males. After learning that convicted mass murderer Richard Speck
Richard Speck
Richard Franklin Speck was a mass murderer who systematically tortured, raped and murdered eight student nurses from South Chicago Community Hospital in Chicago, Illinois on July 14, 1966.- Monmouth, 1941–1950 :...
had been karyotyped, Telfer not only incorrectly assumed the acne-scarred Speck was XYY, but leapt to the egregiously false conclusion that Speck was the archetypical
Archetype
An archetype is a universally understood symbol or term or pattern of behavior, a prototype upon which others are copied, patterned, or emulated...
XYY male—or "supermale" as Telfer referred to XYY males outside of peer-reviewed scientific journals.
In April 1968, The New York Times
The New York Times
The New York Times is an American daily newspaper founded and continuously published in New York City since 1851. The New York Times has won 106 Pulitzer Prizes, the most of any news organization...
—using Telfer as a main source—introduced the XYY genetic condition to the general public in a three-part series on consecutive days that began with a Sunday front-page story about the planned use of the condition as a mitigating factor in two murder trials in Paris
Paris
Paris is the capital and largest city in France, situated on the river Seine, in northern France, at the heart of the Île-de-France region...
and Melbourne
Melbourne
Melbourne is the capital and most populous city in the state of Victoria, and the second most populous city in Australia. The Melbourne City Centre is the hub of the greater metropolitan area and the Census statistical division—of which "Melbourne" is the common name. As of June 2009, the greater...
—and falsely reported that Richard Speck was an XYY male and that the condition would be used in an appeal of his murder conviction.Getty displayed a letter of Sept. 26, 1966, relating that photographic evidence of 18 cells from Speck's blood showed no chromosome abnormality. He also exhibited a letter of last July 3, indicating that 100 of 101 cells in a sample of Speck's blood studied after the original tests showed the normal 46 chromosomes. The other cell had 45, regarded by the Vanderbilt investigators as having no significance.—article by Vanderbilt University
Vanderbilt University
Vanderbilt University is a private research university located in Nashville, Tennessee, United States. Founded in 1873, the university is named for shipping and rail magnate "Commodore" Cornelius Vanderbilt, who provided Vanderbilt its initial $1 million endowment despite having never been to the...
endocrinologist and geneticist Eric Engel, who performed two confidential chromosome analyses of Speck in September 1966 and June 1968. Based on mischaracterizations of XYY males as aggressive and violent criminals in the December 1965 and March 1966 preliminary reports by Jacobs, et al., Engel had made an unsolicited request in August 1966 to Speck's appointed defense attorney, Cook County Public Defender
Cook County Public Defender
The Cook County Public Defender provides legal representation in the areas of felony and misdemeanor criminal, delinquency, abuse/neglect, some appeals, post-conviction and traffic cases throughout the Cook County in Illinois. Currently, the head of the Cook County Public Defender is Abishi C....
Gerald W. Getty, to confidentially karyotype Speck—which was repeated after false news reports in April 1968 that Speck was XYY. The series was echoed the following week by articles—again using Telfer as a main source—in Time
Time (magazine)
Time is an American news magazine. A European edition is published from London. Time Europe covers the Middle East, Africa and, since 2003, Latin America. An Asian edition is based in Hong Kong...
and Newsweek
Newsweek
Newsweek is an American weekly news magazine published in New York City. It is distributed throughout the United States and internationally. It is the second-largest news weekly magazine in the U.S., having trailed Time in circulation and advertising revenue for most of its existence...
, and six months later in The New York Times Magazine
The New York Times Magazine
The New York Times Magazine is a Sunday magazine supplement included with the Sunday edition of The New York Times. It is host to feature articles longer than those typically in the newspaper and has attracted many notable contributors...
.
In December 1968, the Journal of Medical Genetics
Journal of Medical Genetics
The Journal of Medical Genetics is a peer-reviewed medical journal focusing on human genetics. It has been published since September 1964 by the British Medical Association. The most citing journals in 2008 were American Journal of Human Genetics, Nature Genetics, Human Molecular Genetics, Human...
published the first XYY review article—by Michael Court Brown, director of the MRC Human Genetics Unit—which reported no overrepresentation of XYY males in nationwide chromosome surveys of prisons and hospitals for the developmentally disabled and mentally ill in Scotland, and concluded that studies confined to institutionalized XYY males may be guilty of selection bias
Selection bias
Selection bias is a statistical bias in which there is an error in choosing the individuals or groups to take part in a scientific study. It is sometimes referred to as the selection effect. The term "selection bias" most often refers to the distortion of a statistical analysis, resulting from the...
, and that long-term longitudinal
Longitudinal study
A longitudinal study is a correlational research study that involves repeated observations of the same variables over long periods of time — often many decades. It is a type of observational study. Longitudinal studies are often used in psychology to study developmental trends across the...
prospective
Prospective cohort study
A prospective cohort study is a cohort study that follows over time a group of similar individuals who differ with respect to certain factors under study, to determine how these factors affect rates of a certain outcome...
studies of newborn XYY boys were needed.
In May 1969, at the annual meeting of the American Psychiatric Association
American Psychiatric Association
The American Psychiatric Association is the main professional organization of psychiatrists and trainee psychiatrists in the United States, and the most influential worldwide. Its some 38,000 members are mainly American but some are international...
, Telfer and her Elwyn Institute colleagues reported that case studies of the institutionalized XYY and XXY males they had found convinced them that XYY males had been falsely stigmatized and that their behavior may not be significantly different from chromosomally normal 46,XY males.
In June 1969, the National Institute of Mental Health
National Institute of Mental Health
The National Institute of Mental Health is one of 27 institutes and centers that make up the National Institutes of Health...
(NIMH) Center for Studies of Crime and Delinquency held a two-day XYY conference in Chevy Chase, Maryland
Chevy Chase, Maryland
Chevy Chase is the name of both a town and an unincorporated census-designated place in Montgomery County, Maryland. In addition, a number of villages in the same area of Montgomery County include "Chevy Chase" in their names...
. In December 1969, with a grant from the NIMH Center for Studies of Crime and Delinquency, cytogeneticist Digamber Borgaonkar at Johns Hopkins Hospital
Johns Hopkins Hospital
The Johns Hopkins Hospital is the teaching hospital and biomedical research facility of Johns Hopkins University School of Medicine, located in Baltimore, Maryland . It was founded using money from a bequest by philanthropist Johns Hopkins...
began a chromosome survey of (predominantly African-American) boys ages 8 to 18 in all Maryland
Maryland
Maryland is a U.S. state located in the Mid Atlantic region of the United States, bordering Virginia, West Virginia, and the District of Columbia to its south and west; Pennsylvania to its north; and Delaware to its east...
institutions for delinquent, neglected, or mentally ill juveniles, which was suspended from February–May 1970 due to an American Civil Liberties Union
American Civil Liberties Union
The American Civil Liberties Union is a U.S. non-profit organization whose stated mission is "to defend and preserve the individual rights and liberties guaranteed to every person in this country by the Constitution and laws of the United States." It works through litigation, legislation, and...
(ACLU) lawsuit about the lack of informed consent. Concurrently, through 1974, psychologist John Money
John Money
John William Money was a psychologist, sexologist and author, specializing in research into sexual identity and biology of gender...
at Johns Hopkins Hospital experimented on thirteen XYY boys and men (ages 15 to 37) in an unsuccessful attempt to treat their history of behavior problems by chemical castration
Chemical castration
Chemical castration is the administration of medication designed to reduce libido and sexual activity, usually in the hope of preventing rapists, child molesters and other sex offenders from repeating their crimes...
using high-dose Depo-Provera—with side-effects of weight gain (avg. 26 lbs.) and suicide.
1970s
In December 1969, Lore Zech at the Karolinska InstituteKarolinska Institutet
Karolinska institutet is a medical university in Solna within the Stockholm urban area, Sweden, and one of Europe's largest medical universities...
in Stockholm
Stockholm
Stockholm is the capital and the largest city of Sweden and constitutes the most populated urban area in Scandinavia. Stockholm is the most populous city in Sweden, with a population of 851,155 in the municipality , 1.37 million in the urban area , and around 2.1 million in the metropolitan area...
first reported intense fluorescence
Fluorescence
Fluorescence is the emission of light by a substance that has absorbed light or other electromagnetic radiation of a different wavelength. It is a form of luminescence. In most cases, emitted light has a longer wavelength, and therefore lower energy, than the absorbed radiation...
of the A
Adenine
Adenine is a nucleobase with a variety of roles in biochemistry including cellular respiration, in the form of both the energy-rich adenosine triphosphate and the cofactors nicotinamide adenine dinucleotide and flavin adenine dinucleotide , and protein synthesis, as a chemical component of DNA...
T
Thymine
Thymine is one of the four nucleobases in the nucleic acid of DNA that are represented by the letters G–C–A–T. The others are adenine, guanine, and cytosine. Thymine is also known as 5-methyluracil, a pyrimidine nucleobase. As the name suggests, thymine may be derived by methylation of uracil at...
-rich distal half of the long arm of the Y chromosome in the nuclei of metaphase
Metaphase
Metaphase, from the ancient Greek μετά and φάσις , is a stage of mitosis in the eukaryotic cell cycle in which condensed & highly coiled chromosomes, carrying genetic information, align in the middle of the cell before being separated into each of the two daughter cells...
cells treated with quinacrine
Quinacrine
Quinacrine is a drug with a number of different medical applications. It is related to mefloquine.-Uses:Its main effects are as an antiprotozoal, antirheumatic and an intrapleural sclerosing agent....
mustard. In April 1970, Peter Pearson and Martin Bobrow at the MRC
Medical Research Council (UK)
The Medical Research Council is a publicly-funded agency responsible for co-ordinating and funding medical research in the United Kingdom. It is one of seven Research Councils in the UK and is answerable to, although politically independent from, the Department for Business, Innovation and Skills...
Population Genetics Unit in Oxford
Oxford
The city of Oxford is the county town of Oxfordshire, England. The city, made prominent by its medieval university, has a population of just under 165,000, with 153,900 living within the district boundary. It lies about 50 miles north-west of London. The rivers Cherwell and Thames run through...
and Canino Vosa at the University of Oxford
University of Oxford
The University of Oxford is a university located in Oxford, United Kingdom. It is the second-oldest surviving university in the world and the oldest in the English-speaking world. Although its exact date of foundation is unclear, there is evidence of teaching as far back as 1096...
reported fluorescent "male" sex chromatin bodies in the nuclei of interphase cells in buccal smears treated with quinacrine dihydrochloride, which could be used to screen for Y chromosome aneuploidies like 47,XYY.
In June 1970, The XYY Man
The XYY Man
The XYY Man began life as a series of novels by Kenneth Royce, featuring the character of William 'Spider' Scott, a one-time cat-burglar who leaves prison aiming to go straight but finds his talents still to be very much in demand by both the criminal underworld and the British secret service...
was published—the first of seven Kenneth Royce
Kenneth Royce
Kenneth Royce Gandley was an English thriller writer who also wrote under name Ken Royce, and the pseudonym Oliver Jacks.Ken Royce was born in Croydon, UK in 1920 and began writing at school...
spy novels whose fictional tall, intelligent, nonviolent XYY hero was a reformed expert cat burglar recruited by British intelligence for dangerous assignments—and later adapted into a thirteen-episode British summer television series broadcast in 1976 and 1977. In other fictional television works, a January 1971 episode "By the Pricking of My Thumbs ..." of the British science fiction TV series Doomwatch
Doomwatch
Doomwatch is a British science fiction television programme produced by the BBC, which ran on BBC One between 1970 and 1972. The series was set in the then present-day, and dealt with a scientific government agency led by Doctor Spencer Quist , responsible for investigating and combating various...
featured a 16-year-old XYY boy expelled from school because of his genetic condition, a November 1993 episode "Born Bad" of the American police procedural TV series Law & Order
Law & Order
Law & Order is an American police procedural and legal drama television series, created by Dick Wolf and part of the Law & Order franchise. It aired on NBC, and in syndication on various cable networks. Law & Order premiered on September 13, 1990, and completed its 20th and final season on May 24,...
portrayed a 14-year-old XYY sociopathic murderer, and the May 2007 season finale episode "Born To Kill" of the American police procedural TV series CSI: Miami
CSI: Miami
CSI: Miami is an American police procedural television series, which premiered on September 23, 2002 on CBS. The series is a spin-off of CSI: Crime Scene Investigation....
depicted a 34-year-old XYY serial killer. The false stereotype of XYY boys and men as violent criminals has also been used as a plot device in the horror films Il gatto a nove code in February 1971 (dubbed into English as The Cat o' Nine Tails
The Cat o' Nine Tails
The Cat o' Nine Tails is a 1971 Italian giallo thriller film written and directed by Dario Argento; it was his second film as director....
in May 1971) and Alien³ in May 1992.
In December 1970, at the annual meeting of the American Association for the Advancement of Science
American Association for the Advancement of Science
The American Association for the Advancement of Science is an international non-profit organization with the stated goals of promoting cooperation among scientists, defending scientific freedom, encouraging scientific responsibility, and supporting scientific education and science outreach for the...
(AAAS), its retiring president, geneticist H. Bentley Glass
H. Bentley Glass
Hiram Bentley Glass was an American geneticist and noted columnist. Born in China to missionary parents, he attended college at Baylor University in Texas. He then furthered his education at the University of Texas, where he received his Ph.D. degree under the mentorship of geneticist Hermann...
, cheered by the legalization of abortion in New York
New York
New York is a state in the Northeastern region of the United States. It is the nation's third most populous state. New York is bordered by New Jersey and Pennsylvania to the south, and by Connecticut, Massachusetts and Vermont to the east...
, envisioned a future where pregnant women would be required by the government to abort XYY "sex deviants". Mischaracterization of the XYY genetic condition was quickly incorporated into high school biology textbooks and medical school psychiatry textbooks, where misinformation still persists decades later.
In the late 1960s and early 1970s, screening of consecutive newborns for sex chromosome abnormalities was undertaken at seven centers worldwide: in Denver (Jan 1964–1974), Edinburgh
Edinburgh
Edinburgh is the capital city of Scotland, the second largest city in Scotland, and the eighth most populous in the United Kingdom. The City of Edinburgh Council governs one of Scotland's 32 local government council areas. The council area includes urban Edinburgh and a rural area...
(Apr 1967–Jun 1979), New Haven (Oct 1967–Sep 1968), Toronto
Toronto
Toronto is the provincial capital of Ontario and the largest city in Canada. It is located in Southern Ontario on the northwestern shore of Lake Ontario. A relatively modern city, Toronto's history dates back to the late-18th century, when its land was first purchased by the British monarchy from...
(Oct 1967–Sep 1971), Aarhus
Aarhus
Aarhus or Århus is the second-largest city in Denmark. The principal port of Denmark, Aarhus is on the east side of the peninsula of Jutland in the geographical center of Denmark...
(Oct 1969–Jan 1974, Oct 1980–Jan 1989), Winnipeg
Winnipeg
Winnipeg is the capital and largest city of Manitoba, Canada, and is the primary municipality of the Winnipeg Capital Region, with more than half of Manitoba's population. It is located near the longitudinal centre of North America, at the confluence of the Red and Assiniboine Rivers .The name...
(Feb 1970–Sep 1973), and Boston
Boston
Boston is the capital of and largest city in Massachusetts, and is one of the oldest cities in the United States. The largest city in New England, Boston is regarded as the unofficial "Capital of New England" for its economic and cultural impact on the entire New England region. The city proper had...
(Apr 1970–Nov 1974). The Boston study, led by Harvard Medical School
Harvard Medical School
Harvard Medical School is the graduate medical school of Harvard University. It is located in the Longwood Medical Area of the Mission Hill neighborhood of Boston, Massachusetts....
child psychiatrist Stanley Walzer at Children's Hospital
Children's Hospital Boston
Children's Hospital Boston is a 396-licensed bed children's hospital in the Longwood Medical and Academic Area of Boston, Massachusetts.At 300 Longwood Avenue, Children's is adjacent both to its teaching affiliate, Harvard Medical School, and to Dana-Farber Cancer Institute...
, was unique among the seven newborn screening studies in that it only screened newborn boys (non-private-ward newborn boys at the Boston Hospital for Women
Brigham and Women's Hospital
Brigham and Women's Hospital is the largest hospital of the Longwood Medical and Academic Area in Boston, Massachusetts. It is directly adjacent to Harvard Medical School of which it is the second largest teaching affiliate with 793 beds...
) and was funded in part by grants from the NIMH Center for Studies of Crime and Delinquency.
In 1973, child psychiatrist Herbert Schreier at Children’s Hospital told Harvard Medical School microbiologist Jon Beckwith
Jon Beckwith
Jonathan Roger Beckwith is a American microbiologist and geneticist. He is currently the American Cancer Society Professor in the Department of Microbiology and Molecular Genetics at Harvard Medical School in Boston, Massachusetts....
of Science for the People
Science for the People
Science for the People is a left-wing organization that emerged from the antiwar culture of the United States in the 1970s. A similar organization of the same name was founded in 2002....
that he thought Walzer’s Boston XYY study was unethical; Science for the People investigated the study and filed a complaint with Harvard Medical School about the study in March 1974. In November 1974, when the Harvard Medical School committee on medical research recommended that the study continue, Science for the People went public with their objections to the Boston XYY study in a press conference and a New Scientist
New Scientist
New Scientist is a weekly non-peer-reviewed English-language international science magazine, which since 1996 has also run a website, covering recent developments in science and technology for a general audience. Founded in 1956, it is published by Reed Business Information Ltd, a subsidiary of...
article alleging inadequate informed consent, a lack of benefit (since no specific treatment was available) but substantial risk (by stigmatization with a false stereotype) to the subjects, and that the unblinded experimental design could not produce meaningful results regarding the subjects' behavior. Changes to informed consent procedures and pressure from additional advocacy groups, including the Children's Defense Fund
Children's Defense Fund
The Children's Defense Fund is an American child advocacy and research group, founded in 1973 by Marian Wright Edelman. Its motto Leave No Child Behind reflects its mission to advocate on behalf of children...
, led to the 1975 discontinuation of the last active U.S. newborn screening programs for sex chromosome abnormalities in Boston and Denver.
In August 1976, Science published a retrospective cohort study
Retrospective cohort study
A retrospective cohort study, also called a historic cohort study, generally means to take a look back at events that already have taken place...
by Educational Testing Service
Educational Testing Service
Educational Testing Service , founded in 1947, is the world's largest private nonprofit educational testing and assessment organization...
psychologist Herman Witkin and colleagues that screened the tallest 16% of men (over 6'0" in height) born in Copenhagen
Copenhagen
Copenhagen is the capital and largest city of Denmark, with an urban population of 1,199,224 and a metropolitan population of 1,930,260 . With the completion of the transnational Øresund Bridge in 2000, Copenhagen has become the centre of the increasingly integrating Øresund Region...
from 1944–1947 for XXY and XYY karyotypes, and found an increased rate of minor criminal convictions for property crimes among sixteen XXY and twelve XYY men may be related to the lower intelligence of those with criminal convictions, but found no evidence that XXY or XYY men were inclined to be aggressive or violent.
1980s and later
The March of DimesMarch of Dimes
The March of Dimes Foundation is a United States nonprofit organization that works to improve the health of mothers and babies.-Organization:...
sponsored five international conferences in June 1974, November 1977, May 1981, June 1984, and June 1989 and published articles from the conferences in book form in 1979, 1982, 1986, and 1991 from seven longitudinal prospective studies on the development of over 300 children and young adults with sex chromosome abnormalities identified in the screening of almost 200,000 consecutive births in hospitals in Denver, Edinburgh, New Haven, Toronto, Aarhus, Winnipeg, and Boston from 1964 to 1975. These seven studies—the only unbiased studies of unselected individuals with sex chromosome abnormalities—have replaced the older, biased studies of institutionalized individuals in understanding the development of individuals with sex chromosome abnormalities.
In May 1997, Nature Genetics
Nature Genetics
Nature Genetics is a scientific journal concerning genetics. It is published by Nature Publishing Group, and was founded as part of the Nature family of journal in 1992. The 2010 impact factor is 36.377. Its sister journal is Nature Reviews Genetics.- External links :*...
published the discovery by Ercole Rao and colleagues of the X/Y chromosome pseudoautosomal region
Pseudoautosomal region
The pseudoautosomal regions, PAR1 and PAR2 are homologous sequences of nucleotides on the X and Y chromosomes.The pseudoautosomal regions get their name because any genes located within them are inherited just like any autosomal genes...
(PAR1) SHOX
Short stature homeobox gene
Short stature homeobox gene or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy .-Pathology:...
gene, haploinsufficiency
Haploinsufficiency
Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene and the single functional copy of the gene does not produce enough of a gene product to bring about a wild-type condition, leading to an abnormal or diseased state...
of which leads to short stature in Turner syndrome
Turner syndrome
Turner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
(45,X). It was subsequently postulated that the increased gene dosage of three SHOX genes leads to tall stature in the sex chromosome trisomies 47,XXX, 47,XXY, and 47,XYY. In September 2007, the American Journal of Medical Genetics published a report by Marquis Vawter and colleagues that the increased gene dosage of three pseudoautosomal region PAR1 GTPBP6
GTPBP6
GTP binding protein 6 also known as GTPBP6 is a protein which in humans is encoded by the pseudoautosomal GTPBP6 gene.- Clinical significance :...
genes in Klinefelter's syndrome (47,XXY) was correlated with decreased verbal IQ.
See also
- Klinefelter's syndromeKlinefelter's syndromeKlinefelter syndrome, 46/47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosomes and at least one Y chromosome...
(47, XXY) - Triple X syndromeTriple X syndromeTriple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. The condition always produces females, with an XX pair of chromosomes, as well as an additional chromosome, resulting in the formation of XXX. A mosaic form...
(47, XXX) - Turner syndromeTurner syndromeTurner syndrome or Ullrich-Turner syndrome encompasses several conditions in human females, of which monosomy X is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosomes is absent...
(45,X) - XXYY syndrome (48, XXYY)
External links
- Guy's HospitalGuy's HospitalGuy's Hospital is a large NHS hospital in the borough of Southwark in south east London, England. It is administratively a part of Guy's and St Thomas' NHS Foundation Trust. It is a large teaching hospital and is home to the King's College London School of Medicine...
Clinical Genetics Department (2001, 2005). The XYY condition. Scottish Genetics Education Network (ScotGEN)- XYY information leaflet based on work of Dr. Ratcliffe, a pediatrician and geneticist who led the largest of 7 international newborn screening studies of sex chromosome abnormalities.
- Nielsen, Johannes (1998). XYY males. An orientation. The Turner Center, AarhusAarhusAarhus or Århus is the second-largest city in Denmark. The principal port of Denmark, Aarhus is on the east side of the peninsula of Jutland in the geographical center of Denmark...
Psychiatric Hospital, RisskovRisskovRisskov is one of the most affluent areas in Denmark, and a district to the city of Aarhus. The name literally means The Forest of Riis, as described on the memorial stone marking the entrance to the area.-Origin of name and history of Riis Skov:...
, DenmarkDenmarkDenmark is a Scandinavian country in Northern Europe. The countries of Denmark and Greenland, as well as the Faroe Islands, constitute the Kingdom of Denmark . It is the southernmost of the Nordic countries, southwest of Sweden and south of Norway, and bordered to the south by Germany. Denmark...
.- XYY information booklet by Dr. Nielsen, a psychiatrist and geneticist who led the longest running of 7 international newborn screening studies of sex chromosome abnormalities.
- XYY syndrome page on the Contact a FamilyContact a FamilyContact a Family is a UK-based registered charity for families with disabled children offering support, advice and information regardless of the child's medical condition or situation. As well as supporting families the charity supports those who assist the families, including medical and...
Directory website- has background and medical information and details of UK support groups