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    
Abstract/OtherAbstract:
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.
Authors:
A C Lindgren; U Grandell; E M Ritzén; M Anvret
Related Documents :
20051989 - Differential decay of parent-of-origin-specific genomic sharing in cystic fibrosis-affe...
17337339 - Mitotic recombination and uniparental disomy in beckwith-wiedemann syndrome.
7479599 - A case of paternal uniparental disomy for chromosome 11.
7896109 - The population dynamics of maternal-effect selfish genes.
9322229 - Imprinted x-linked genes, 'feminine intuition' and the public (mis)understanding of sci...
9863599 - Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evide...
20497969 - Identification of y chromosome genetic variations in chinese indigenous horse breeds.
23300629 - Linkage replication for chromosomal region 13q32 in schizophrenia: evidence from a braz...
18471269 - Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterizatio...
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    
Affiliation:
Department of Woman and Child Health, Karolinska Hospital, Stockholm, Sweden.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Child, Preschool
Chromosomes, Human, Pair 15 / genetics*
DNA Probes
Female
Humans
Karyotyping
Male
Methylation
Prader-Willi Syndrome / diagnosis*,  genetics*
Chemical
Reg. No./Substance:
0/DNA Probes

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Asthma treatment in schoolchildren: lung function in different therapeutic groups.
Next Document:  Going Dutch in nocturnal enuresis.