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Article

Mosaic isochromosome 15q and maternal uniparental isodisomy for chromosome 15 in a patient with morbid obesity and variant PWS-like phenotype.

American journal of medical genetics. Part A - 1 Jul 2013

Wang Jia-Chi, Vaccarello-Cruz Mary, Ross Leslie, Owen Renius, Pratt Victoria M, Lightman Katherine, Liu Yan, Hafezi Katayoun, Cherif Dhia, Sahoo Trilochan

Abstract excerpt

Angelman and Prader-Willi syndromes are reciprocal imprinting disorders caused by loss of maternally or paternally expressed genes, respectively, within 15q11.2-q13. Angelman syndrome (AS; OMIM 105830) is a neurodevelopmental disorder and is due to the loss of maternally expressed UBE3A gene. Prader-Willi syndrome (PWS; OMIM 176270) is a clinically distinct disorder caused by the loss of paternally expressed...

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Share to Chromosomes, Human, Pair 15
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to In Situ Hybridization, Fluorescence

Share to Obesity, Morbid

Share to Oligonucleotide Array Sequence Analysis

Share to Prader-Willi Syndrome

Share to snRNP Core Proteins

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Identifiers

PMID: 23686718
DOI: 10.1002/ajmg.a.35939

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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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