Document Detail

Heterotaxia syndrome and autosomal dominant inheritance.
MedLine Citation:
PMID:  7747776     Owner:  NLM     Status:  MEDLINE    
Previous familial cases of recurrent heterotaxia have suggested an autosomal recessive or exceptionally X-linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of heterotaxia. The other two families have one member with heterotaxia and at least one other affected member with an "isolated" heart malformation, which could be considered as a mild form of heterotaxia. In five families, the disorder is transmitted through two or three generations. In one family, the patients are of the same generation but are linked to each other by obligate carriers. We suggest a rule to classify these families with heart malformations, according to the etiologic factor involved (rule of precocity). This rule might be useful to other disruptions of morphogenetic processes.
S Alonso; M E Pierpont; W Radtke; J Martinez; S C Chen; J W Grant; I Dähnert; S Taviaux; M C Romey; J Demaille
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  56     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-06-13     Completed Date:  1995-06-13     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  12-5     Citation Subset:  IM    
CRBM, CNRS UPR 9008, Montpellier, France.
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MeSH Terms
Fatal Outcome
Genes, Dominant*
Infant, Newborn
Situs Inversus / genetics*
Viscera / abnormalities*
Comment In:
Am J Med Genet. 1997 Apr 14;69(4):429-30   [PMID:  9098496 ]

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

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