Document Detail


Trisomy 19 q.
MedLine Citation:
PMID:  1084117     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Two sibs with trisomy for the long arm of chromosome 19 are reported. The common features included flat facial profile with microcephaly, hypertelorism, ptosis, prominence of the glabella, small nose with anteverted nostrils and a characteristic fish-shaped mouth. In addition congenital heart disease, physical retardation and seizures were seen in both sibs. That tristomy 19q can be suspected clinically is emphasized.
Authors:
M Lange; O S Alfi
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, Non-P.H.S.    
Journal Detail:
Title:  Annales de génétique     Volume:  19     ISSN:  0003-3995     ISO Abbreviation:  Ann. Genet.     Publication Date:  1976 Mar 
Date Detail:
Created Date:  1976-08-02     Completed Date:  1976-08-02     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370562     Medline TA:  Ann Genet     Country:  FRANCE    
Other Details:
Languages:  eng     Pagination:  17-21     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Chromosomes, Human, 19-20*
Heart Defects, Congenital / genetics
Humans
Infant
Infant, Newborn
Male
Pedigree
Respiratory System Abnormalities
Seizures / congenital
Thumb / abnormalities
Trisomy*

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


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