Document Detail


Uniparental disomy and the phenotype of mosaic trisomy 20: a new case and review of the literature.
MedLine Citation:
PMID:  19638687     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Mosaic trisomy 20 is one of the most commonly reported chromosome abnormalities detected prenatally, but is rare postnatally. Many studies have hypothesized that uniparental disomy (UPD) may play a role in phenotype variability, but this has not been widely studied. Here we report an additional case of mosaic trisomy 20 with altered pigmentation, in which UPD was not found, and we review the literature.
Authors:
Z Powis; R P Erickson
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of applied genetics     Volume:  50     ISSN:  1234-1983     ISO Abbreviation:  J. Appl. Genet.     Publication Date:  2009  
Date Detail:
Created Date:  2009-07-29     Completed Date:  2009-11-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9514582     Medline TA:  J Appl Genet     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  293-6     Citation Subset:  IM    
Affiliation:
Section of Medical and Molecular Genetics, Department of Pediatrics, University of Arizona, Tucson, Arizona 85724-5073, USA.
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MeSH Terms
Descriptor/Qualifier:
Chromosomes, Human, Pair 20 / genetics*
Humans
Karyotyping
Male
Microsatellite Repeats / genetics*
Trisomy / genetics*
Uniparental Disomy / genetics*

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


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