Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.

Article

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15.

American journal of medical genetics - 11 Jul 1997

Gunay-Aygun M, Heeger S, Schwartz S, Cassidy S B

Abstract excerpt

Prader-Willi syndrome (PWS) results from absence of the normally active paternally inherited genes on proximal 15q, due to del(15)(q11q13) or by maternal uniparental disomy (UPD) 15 in most cases. In addition to a higher frequency of hypopigmentation among deletion patients, minor phenotypic diff...

Topics

Child
Child, Preschool
Chromosome Aberrations
Chromosomes, Human, Pair 15
Female
Gene Deletion
Humans
In Situ Hybridization, Fluorescence
Male
Phenotype
Prader-Willi Syndrome
Retrospective Studies

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