The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.

doi:10.1111/j.1651-2227.1997.tb18370.x

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Article

The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Nov 1997

Brøndum-Nielsen K

Abstract excerpt

The genetic basis of Prader-Willi syndrome involves imprinted genes on the proximal long arm of chromosome 15. The basic defect appears to be the absence of function of genes that are normally expressed in a monoallelic fashion only from the paternal chromosome. In 60-70% of patients with Prader-...

Topics

Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 15
Gene Deletion
Genomic Imprinting
Humans
Mutation
Prader-Willi Syndrome

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