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Article

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

Cytogenetic and genome research - 1 Jan 2016

Dang Vy, Surampalli Abhilasha, Manzardo Ann M, Youn Stephanie, Butler Merlin G, Gold June-Anne, Kimonis Virginia E

Abstract excerpt

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27894106
DOI: 10.1159/000452611
PMCID: PMC5812461

Genes

GABRA5
GABRB3
GABRG3
OCA2
STK11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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