Chromosome 15q partial deletion
Encyclopedia
Chromosome 15q partial deletion is an extremely rare human
genetic disorder
, caused by a chromosomal aberration in which the long ("q") arm of one copy of chromosome
15 is deleted, or partially deleted. If the mother's copy of the chromosomal arm is deleted, Angelman syndrome
results. If the father's copy of the chromosomal arm is deleted, Prader-Willi syndrome
results. The smallest observed region that can result in these syndromes when deleted is therefore called the PWS/AS critical region and is situated at 15q11-q13. In addition to deletions, uniparental disomy of chromosome 15 gives rise to the same genetic disorders, indicating that genomic imprinting must occur in this region.
Human
Humans are the only living species in the Homo genus...
genetic disorder
Genetic disorder
A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
, caused by a chromosomal aberration in which the long ("q") arm of one copy of chromosome
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
15 is deleted, or partially deleted. If the mother's copy of the chromosomal arm is deleted, Angelman syndrome
Angelman syndrome
Angelman syndrome is a neuro-genetic disorder characterized by intellectual and developmental delay, sleep disturbance, seizures, jerky movements , frequent laughter or smiling, and usually a happy demeanor....
results. If the father's copy of the chromosomal arm is deleted, Prader-Willi syndrome
Prader-Willi syndrome
Prader–Willi syndrome is a rare genetic disorder in which seven genes on chromosome 15 are deleted or unexpressed on the paternal chromosome...
results. The smallest observed region that can result in these syndromes when deleted is therefore called the PWS/AS critical region and is situated at 15q11-q13. In addition to deletions, uniparental disomy of chromosome 15 gives rise to the same genetic disorders, indicating that genomic imprinting must occur in this region.
See also
- Chromosome 15q trisomyChromosome 15q trisomyChromosome 15q trisomy is an extremely rare genetic disorder, caused by a chromosomal aberration in which there is an excess copy of the long arm of human chromosome 15...
- GeneticsGeneticsGenetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....
- Genetic deletionGenetic deletionIn genetics, a deletion is a mutation in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome...