Document Detail

Trisomy 4 in a fetus with cyclopia and other anomalies.
MedLine Citation:
PMID:  8484409     Owner:  NLM     Status:  MEDLINE    
We report on an 18-week fetus with cyclopia, alobar holoprosencephaly, complex congenital heart defect, anal atresia, oligosyndactyly, cystic hygroma, and skeletal abnormalities with trisomy 4. Structural anomalies were detected on routine ultrasound of the pregnancy of a 17-year-old G3 P1 TAB1 woman with sickle cell trait. Trisomy 4 conceptuses usually miscarry in the first trimester. We are aware of no other reports of a fetus with trisomy 4 and cyclopia. Causal association of chromosome abnormalities and holoprosencephaly sequence may be more apparent in embryos and early fetuses than term fetuses because of poor viability of affected conceptuses.
M I Van Allen; S Ritchie; A Toi; K Fong; E Winsor
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  46     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1993 Apr 
Date Detail:
Created Date:  1993-06-01     Completed Date:  1993-06-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  193-7     Citation Subset:  IM    
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
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MeSH Terms
Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 4*
Eye Abnormalities / genetics*
Heart Defects, Congenital / genetics
Holoprosencephaly / genetics
Lymphangioma / genetics

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