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Article

Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).

Annales de genetique - 1 Jan 2000

Varela Monica C, Lopes Graziela M P, Koiffmann Celia P

Abstract excerpt

Prader-Willi syndrome (PWS) is a neurobehavioral disorder caused by deletions in the 15q11-q13 region, by maternal uniparental disomy of chromosome 15 or by imprinting defects. Structural rearrangements of chromosome 15 have been described in about 5% of the patients with typical or atypical PWS phenotype. An 8-year-old boy with a clinical diagnosis of PWS, severe neurodevelopmental delay, absence of speech and...

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

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

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Source

Identifiers

PMID: 15337472
DOI: 10.1016/j.anngen.2004.01.003

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SNRPN

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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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