Document Detail

Diagnosis of the Prader-Willi syndrome by proving the absence of the unmethylated PW71 DNA fragment.
MedLine Citation:
PMID:  8640049     Owner:  NLM     Status:  MEDLINE    
The Prader-Willi syndrome (PWS) is a genetic disorder which is difficult to diagnose from clinical symptoms in newborns and young children. However, it is known that in PWS a fragment within the q11-13 region of the paternally derived chromosome 15 is deleted. Recently it has been observed that the D15S63 (PW71) locus in chromosome 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this observation a rapid diagnostic test (the PW71 methylation test) using methylation-sensitive restriction enzymes has been developed for patients presumed to have PWS. We have studied 56 patients; 30 patients with classical features of PWS and 26 patients with only psychomotor retardation and obesity, referred to us from different part of Sweden. Twenty-nine of the 30 classical PWS patients were found to have an absence of the unmethylated paternally derived PW71(D15S63) locus in chromosome 15q11-13. None of the patients with only obesity and psychomotor retardation had this "absence" pattern on chromosome 15q11-13. Using the PW71 methylation test on patients with PWS, a concordance of 96% was found. The PW71 methylation test is presently the method of choice for rapid diagnostic testing of patients suspected of having PWS.
A C Lindgren; U Grandell; E M Ritzén; M Anvret
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  85     ISSN:  0803-5253     ISO Abbreviation:  Acta Paediatr.     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1996-07-15     Completed Date:  1996-07-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  NORWAY    
Other Details:
Languages:  eng     Pagination:  195-8     Citation Subset:  IM    
Department of Woman and Child Health, Karolinska Hospital, Stockholm, Sweden.
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MeSH Terms
Child, Preschool
Chromosomes, Human, Pair 15 / genetics*
DNA Probes
Prader-Willi Syndrome / diagnosis*,  genetics*
Reg. No./Substance:
0/DNA Probes

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