Document Detail

Molecular and cytogenetic studies of the Prader-Willi syndrome.
MedLine Citation:
PMID:  1682493     Owner:  NLM     Status:  MEDLINE    
Twenty-seven subjects with the Prader-Willi syndrome (PWS) were studied. Sixteen (59%) had a cytogenetic deletion involving chromosome 15q11-13. Nine were non-deletional and two patients had structural rearrangements of chromosome 15: 47,XY, + del(15)(pter----q12), var(15)(p11) and 45,XX,t(14q15q). At the DNA level, a greater proportion of patients (74%) showed loss of one chromosome 15q11-13 allele using a combination of densitometry and RFLP analysis. Deletion sizes were variable with 13 of 20 detectable both cytogenetically and with probe pML34 (D15S9). The remaining seven had microdeletions at the pML34 locus. Heterogeneity was further seen in three subjects who had cytogenetic deletions but normal DNA studies. In one patient there was evidence of a duplication at the pML34 locus. A new molecular rearrangement was identified with probe p3.21 (D15S10) in two patients and their mothers. Fifteen family studies were performed. In all 10 families where there was a molecular deletion, this was shown to have arisen de novo. DNA mapping confirmed that the paternal 15q allele was lost in three patients with PWS.
R J Trent; F Volpato; A Smith; R Lindeman; M K Wong; G Warne; E Haan
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of medical genetics     Volume:  28     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1991 Oct 
Date Detail:
Created Date:  1991-12-16     Completed Date:  1991-12-16     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  649-54     Citation Subset:  IM    
Department of Molecular Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
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MeSH Terms
Blotting, Southern
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 15
DNA / genetics
Polymorphism, Restriction Fragment Length
Prader-Willi Syndrome / genetics*
Reg. No./Substance:

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