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Article

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome

2 Dec 1996

Abstract excerpt

Prader-Willi syndrome (PWS) is caused by absence of a paternal contribution of the chromosome region 15q11-q13, resulting from paternal deletions, maternal uniparental disomy, or rare imprinting mutations. Laboratory diagnosis is currently performed using fluorescence in situ hybridization (FISH), DNA polymorphism (microsatellite) analysis, or DNA methylation analysis at locus PW71 (D15S63). We examined another...

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Identifiers

PMID: 8957518
DOI: 10.1002/(sici)1096-8628(19961202)66:1<77::aid-ajmg18>3.0.co;2-n

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndromePMID 8957518Read ↗

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