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    
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.
A Fujimoto; M S Lin; S R Korula; M G Wilson
Related Documents :
18160776 - Molecular studies of segmental aneusomy: fishing for the atypical cry in del(5)(p15.3).
11675616 - The origin of abnormalities in recurrent aneuploidy/polyploidy.
6230306 - Use of a chromosome 21 cloned dna probe for the analysis of non-disjunction in down syn...
4050866 - Trisomy 14 mosaicism with t(14;15)(q11;p11) in offspring of a balanced translocation ca...
18514516 - Rec25 and rec27, novel linear-element components, link cohesin to meiotic dna breakage ...
20433886 - Polymorphisms in the 2q33 and 3q21 chromosome regions including t-cell coreceptor and l...
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    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics
Child, Preschool
Chromosomes, Human, 13-15*
Face / abnormalities
Growth Disorders / genetics
Pigmentation Disorders / genetics
Tetralogy of Fallot / genetics
Translocation, Genetic*
Grant Support
286//PHS HHS

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

Previous Document:  Familial microtia, meatal atresia, and conductive deafness in three siblings.
Next Document:  Cystic fibrosis in Ontario.