Document Detail

Trisomy 13 and Rubinstein-Taybi syndrome.
MedLine Citation:
PMID:  1121015     Owner:  NLM     Status:  MEDLINE    
Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.
F P Garcia; L Y Hsu; H Fox; D Gribetz
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of medical genetics     Volume:  12     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1975 Mar 
Date Detail:
Created Date:  1975-06-25     Completed Date:  1975-06-25     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  104-5     Citation Subset:  IM    
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MeSH Terms
Abnormalities, Multiple / diagnosis*
Chromosomes, Human, 13-15*
Diagnosis, Differential
Infant, Newborn
Leukocytes / ultrastructure
Rubinstein-Taybi Syndrome / diagnosis*

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