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Sporadic occurrence of nondeletion Prader-Willi syndrome in two cases: a female with maternal uniparental disomy and a male with complex chromosomal rearrangement.

Nutrition (Burbank, Los Angeles County, Calif.) - 1 Jan 2000

Murthy S K, al-Nassar K E, Verghese L

Abstract excerpt

We report here two cases of nondeletion Prader-Willi syndrome (PWS). Case 1 is a 9-yr-old female patient with classical features of the syndrome and cytogenetically normal chromosome 15. DNA analysis using polymorphic probes for Prader-Willi Critical Region (PWCR) showed absence of paternal alleles while maternal uniparental isodisomy (UPisoD) was confirmed. This is the first report of nondeletion PWS with...

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PMID: 8748243

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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