Document Detail

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.
MedLine Citation:
PMID:  1684085     Owner:  NLM     Status:  MEDLINE    
Thirty-seven patients presenting features of the Prader-Willi syndrome (PWS) have been examined using cytogenetic and molecular techniques. Clinical evaluation showed that 29 of these patients fulfilled diagnostic criteria for PWS. A deletion of the 15q11.2-q12 region could be identified molecularly in 21 of these cases, including several cases where the cytogenetics results were inconclusive. One clinically typical patient is deleted at only two of five loci normally included in a PWS deletion. A patient carrying a de novo 13;X translocation was not deleted for the molecular markers tested but was clinically considered to be "atypical" PWS. In addition, five cases of maternal heterodisomy and two of isodisomy for 15q11-q13 were observed. All of the eight patients who did not fulfill clinical diagnosis of PWS showed normal maternal and paternal inheritance of chromosome 15 markers; however, one of these carried a ring-15 chromosome. A comparison of clinical features between deletion patients and disomy patients shows no significant differences between the two groups. The parental ages at birth of disomic patients were significantly higher than those for deletion patients. As all typical PWS cases showed either a deletion or disomy of 15q11.2-q12, molecular examination should provide a reliable diagnostic tool. As the disomy patients do not show either any additional or more severe features than typical deletion patients do, it is likely that there is only one imprinted region on chromosome 15 (within 15q11.2-q12).
W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  49     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-01-10     Completed Date:  1992-01-10     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1219-34     Citation Subset:  IM    
Institute of Medical Genetics, University of Zurich, Switzerland.
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MeSH Terms
Child, Preschool
Chromosome Banding
Chromosome Deletion
Chromosomes, Human, Pair 15
Genetic Markers
Polymorphism, Restriction Fragment Length
Prader-Willi Syndrome / diagnosis,  genetics*
Reg. No./Substance:
0/Genetic Markers

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