Document Detail

Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.
MedLine Citation:
PMID:  3458668     Owner:  NLM     Status:  MEDLINE    
Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal breakage and breakage induced by diepoxybutane (DEB) were analyzed. Increased breakage was used as a marker for the syndrome. Our results were unambiguous and provide a reliable method for prenatal detection of FA in the first trimester of pregnancy.
A D Auerbach; Z Min; R Ghosh; E Pergament; Y Verlinsky; H Nicolas; J Boué
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human genetics     Volume:  73     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  1986 May 
Date Detail:
Created Date:  1986-07-09     Completed Date:  1986-07-09     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  86-8     Citation Subset:  IM    
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MeSH Terms
Anemia, Aplastic / diagnosis*
Cells, Cultured
Chorionic Villi / ultrastructure
Chromosome Aberrations / drug effects*
Epoxy Compounds / toxicity
Fanconi Anemia / diagnosis*,  genetics
Genetic Markers
Pregnancy Trimester, First
Prenatal Diagnosis / methods*
Grant Support
Reg. No./Substance:
0/Epoxy Compounds; 0/Genetic Markers; 0/Mutagens; 1464-53-5/erythritol anhydride

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

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