Document Detail


Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.
MedLine Citation:
PMID:  8168819     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 29-year-old male with Angelman syndrome and an unbalanced reciprocal translocation, 45,XY,-8, -15, +der(8),t(8;15)(p23.3;q11)pat, was evaluated with DNA studies. These showed the underlying mechanism to be paternal uniparental disomy. This is the second case reported of Angelman syndrome that has resulted from a familial unbalanced reciprocal translocation.
Authors:
A Smith; Z M Deng; R Beran; T Woodage; R J Trent
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human genetics     Volume:  93     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1994 Apr 
Date Detail:
Created Date:  1994-06-01     Completed Date:  1994-06-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  471-3     Citation Subset:  IM    
Affiliation:
Department of Genetics, Children's Hospital, Camperdown, NSW, Australia.
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MeSH Terms
Descriptor/Qualifier:
Adult
Angelman Syndrome / genetics*
Chromosomes, Human, Pair 15*
Chromosomes, Human, Pair 8*
Female
Humans
Male
Pedigree
Translocation, Genetic*

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


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