Chromosome 15q trisomy is an extremely rare 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 there is an excess copy of the long ("q") arm of human

Human

Humans are the only living species in the Homo genus...

 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. The disorder is also known as Distal Duplication 15q and Partial Duplication 15q Syndrome.

The disorder is primarily characterized by growth abnormalities, which range from growth retardation to accelerated growth, mental retardation

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, and distinctive malformations of the head and face

Face

The face is a central sense organ complex, for those animals that have one, normally on the ventral surface of the head, and can, depending on the definition in the human case, include the hair, forehead, eyebrow, eyelashes, eyes, nose, ears, cheeks, mouth, lips, philtrum, temple, teeth, skin, and...

. Additional abnormalities may involve malformation of the skeleton

Skeleton

The skeleton is the body part that forms the supporting structure of an organism. There are two different skeletal types: the exoskeleton, which is the stable outer shell of an organism, and the endoskeleton, which forms the support structure inside the body.In a figurative sense, skeleton can...

, spine

Vertebral column

In human anatomy, the vertebral column is a column usually consisting of 24 articulating vertebrae, and 9 fused vertebrae in the sacrum and the coccyx. It is situated in the dorsal aspect of the torso, separated by intervertebral discs...

 and neck

Neck

The neck is the part of the body, on many terrestrial or secondarily aquatic vertebrates, that distinguishes the head from the torso or trunk. The adjective signifying "of the neck" is cervical .-Boner anatomy: The cervical spine:The cervical portion of the human spine comprises seven boney...

; finger

Finger

A finger is a limb of the human body and a type of digit, an organ of manipulation and sensation found in the hands of humans and other primates....

s and/or toe

Toe

Toes are the digits of the foot of a tetrapod. Animal species such as cats that walk on their toes are described as being digitigrade. Humans, and other animals that walk on the soles of their feet, are described as being plantigrade; unguligrade animals are those that walk on hooves at the tips of...

s; genitals (particularly in males); and, in some cases, heart

Heart

The heart is a myogenic muscular organ found in all animals with a circulatory system , that is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions...

 problems. When accelerated growth is present, it is thought to result from the duplication of the IGF1 receptor gene.

See also

• Chromosome 15q partial deletion
  Chromosome 15q partial deletion
  Chromosome 15q partial deletion is an extremely rare human genetic disorder, caused by a chromosomal aberration in which the long 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...
  
  
• Genetics
  Genetics
  Genetics , a discipline of biology, is the science of genes, heredity, and variation in living organisms....