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Article

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

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

Izumi Kosuke, Santani Avni B, Deardorff Matthew A, Feret Holly A, Tischler Tanya, Thiel Brian D, Mulchandani Surabhi, Stolle Catherine A, Spinner Nancy B, Zackai Elaine H, Conlin Laura K

Abstract excerpt

Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and...

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

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Source

Identifiers

PMID: 23225330
DOI: 10.1002/ajmg.a.35625

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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