Chromosome 15q partial deletion is a rare
human
Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ...
genetic disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...
, caused by a
chromosomal aberration in which the long ("q") arm of one copy of
chromosome 15
Chromosome 15 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 15 spans about 102 million base pairs (the building material of DNA) and represents between 3% and 3.5% of the total DNA ...
is deleted, or partially deleted. Like other chromosomal disorders, this increases the risk of birth defects, developmental delay and learning difficulties, however, the problems that can develop depend very much on what genetic material is missing. If the mother's copy of the chromosomal region 15q11-13 is deleted,
Angelman syndrome (AS) can result. The sister syndrome
Prader-Willi syndrome (PWS) can result if the father's copy of the chromosomal region 15q11-13 is deleted. The smallest observed region that can result in these syndromes when deleted is therefore called the ''PWS/AS critical region''. In addition to deletions,
uniparental disomy of chromosome 15 also gives rise to the same genetic disorders, indicating that
genomic imprinting must occur in this region.
Deletions of regions of chromosome 15 (notably regions 15q15 and 15q22) on several types of human tumours suggest the presence of a potential tumor suppressor gene. This disorder occurs in approximately 1 in 40,000 live births
See also
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Chromosome 15q trisomy
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Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ...
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Genetic deletion
In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication. Any number of nucleoti ...
References
External links
Genetic disorders with no OMIM
{{Genetic-disorder-stub