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Article

Expanded Prader-Willi syndrome due to chromosome 15q11.2-14 deletion: report and a review of literature.

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

Liu Anthony P Y, Tang Wing Fai, Lau Elizabeth T, Chan Kelvin Y K, Kan Anita S Y, Wong Kar Yin, Tso Winnie W Y, Jalal Khair, Lee So Lun, Chau Christy S K, Chung Brian H Y

Abstract excerpt

We report on a male infant with de novo unbalanced t(5;15) translocation resulting in a 17.23 Mb deletion within 15q11.2-q14 and a 25.12 kb deletion in 5pter. The 15q11.2-q14 deletion encompassed the 15q11.2-q13 Prader-Willi syndrome (PWS) critical region and the recently described 15q13.3 microdeletion syndrome region while the 5pter deletion contained no RefSeq genes. From our literature review, patients with...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 23633107
DOI: 10.1002/ajmg.a.35909

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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