LP172694-4

5p15.2 chromosome

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Description

Cri-du-chat syndrome (5p- or 5p minus syndrome) is caused by a deletion of the end of the short (p) arm of chromosome 5. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri-du-chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Studies also show that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. Most cases of cri-du-chat syndrome are not inherited; the deletion occurs as a random or de novo event. About 10 percent of patients with 5p- inherit the chromosome abnormality from an unaffected parent who carries a balance chromosomal translocation, in which no genetic material is gained or lost. Source: Genetic Home Reference, National Library of Medicine, Cri-du-chat syndrome (5p-)

Basic Part Properties

Part Name

5p15.2 chromosome

Part Display Name

5p15.2 (5p-) chromosome

Part Type

Component (Describes the core component or analyte measured)

Created On

2013-02-21

Construct for LOINC Short Name

5p15.2

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