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Article

De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome.

American journal of medical genetics. Part A - 15 Aug 2003

Florez Luisa, Anderson Mary, Lacassie Yves

Abstract excerpt

Different genetic and non-genetic disorders, including several chromosomal abnormalities, may mimic Prader-Willi syndrome (PWS). We report on an 11-year-old girl with features reminiscent of PWS due to an unreported de novo paracentric inversion Xq26q28. Microdeletion 15q11-q13 and maternal uniparental disomy 15 were ruled out. The importance of chromosomal studies in addition to molecular analysis on patients...

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Identifiers

PMID: 12900904
DOI: 10.1002/ajmg.a.20129

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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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