Document Detail


Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation carrier mother.
MedLine Citation:
PMID:  4050866     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 2-year-old girl with growth and developmental retardation, minor facial anomalies, asymmetry of face and body, tetralogy of Fallot, and reticular hyperpigmentation of the skin was found to have mosaic trisomy 14 involving a t(14;15)(q11;p11). The patient showed mosaicism for 46,XX cell line, apparently resulting from a break of the translocation chromosome and a subsequent loss of 14q. The mother has a balanced translocation t(14;15)(q11;p11). Inherited trisomy 14 has not been reported previously.
Authors:
A Fujimoto; M S Lin; S R Korula; M G Wilson
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  22     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1985 Oct 
Date Detail:
Created Date:  1985-11-18     Completed Date:  1985-11-18     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  333-42     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Child, Preschool
Chromosomes, Human, 13-15*
Cytogenetics
Face / abnormalities
Female
Growth Disorders / genetics
Humans
Mosaicism*
Pigmentation Disorders / genetics
Tetralogy of Fallot / genetics
Translocation, Genetic*
Trisomy*
Grant Support
ID/Acronym/Agency:
286//PHS HHS

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


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