Document Detail


Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15--case report plus review of similar cases.
MedLine Citation:
PMID:  16053909     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that can result either from a 15q11-q13 deletion, paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. A small cytogenetic subset of PWS and AS patients are carriers of a so-called small supernumerary marker chromosome (sSMC). Here, we report on an previously unreported PWS case with a karyotype 47,XY,+min(15)(pter->q11.1:) plus maternal heterodisomic UPD 15. A review of the literature revealed, that for both, PWS and AS patients, cases with (1) a sSMC plus microdeletion of the PWS/AS critical region, (2) inv dup(15) plus uniparental disomy (UPD) 15 and (3) cases without exclusion of a microdeletion an UBE3A mutation or UPD are described. The present case as well as the review of similar cases provides further evidence for the necessity to test UPD in prenatal cases with a de novo sSMC and in postnatal cases with otherwise unexplainable clinical phenotype.
Authors:
Thomas Liehr; Elke Brude; Gabriele Gillessen-Kaesbach; Rainer König; Kristin Mrasek; Ferdinand von Eggeling; Heike Starke
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Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2005-02-17
Journal Detail:
Title:  European journal of medical genetics     Volume:  48     ISSN:  1769-7212     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2005 Apr-Jun
Date Detail:
Created Date:  2005-08-01     Completed Date:  2005-09-15     Revised Date:  2008-05-28    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  175-81     Citation Subset:  IM    
Affiliation:
Institute of Human Genetics and Anthropology, Jena, Germany. i8lith@mti.uni-jena.de
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MeSH Terms
Descriptor/Qualifier:
Angelman Syndrome / genetics
Chromosome Deletion
Chromosomes, Human, Pair 15 / genetics*
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
Mutation
Phenotype
Prader-Willi Syndrome / genetics*
Ubiquitin-Protein Ligases / genetics
Uniparental Disomy*
Chemical
Reg. No./Substance:
0/UBE3A protein, human; EC 6.3.2.19/Ubiquitin-Protein Ligases

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


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