Document Detail

A fragile site at 10q23 (FRA10A) in a phenytoin-exposed fetus: a case report and review of the literature.
MedLine Citation:
PMID:  15849796     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To report fragility at 10q23.3 in a fetus exposed to phenytoin during pregnancy. Review of the literature. METHODS: Amniocytes were cultured in A10 (WISENT) culture medium. Molecular polymorphism studies of MTHFR gene using PCR were performed on fetal tissues. RESULTS: The fragile site was expressed in all 22 amniocyte colonies analyzed. Analysis of fetal blood showed 46,XX[98]/46,XX,fra(10)(q23.3)[3]/46,XX,del(10)(q23.3) [1]. Molecular studies of the MTHFR (methylenetetrahydrofolate reductase) gene identified a compound heterozygote genotype for two polymorphisms, 677C>T and 1298A>C. CONCLUSION: The fragility at 10q23.3 is unlikely to be due to culture condition-induced folic acid deficiency (medium contains folate). It is possible that this finding represents a previously undescribed folic acid-insensitive fragile site in the region of 10q23.3. Alternatively, the fetal cells may have had decreased folate metabolism, and the fragile site was the known folate-sensitive FRA10A. Since phenytoin has been shown to decrease MTHFR activity in mice, we postulate that the fragile site at 10q23.3 in this fetus may have arisen secondary to a combination of the polymorphisms in MTHFR and exposure to this drug, and is indeed FRA10A.
Chantal F Morel; Alessandra M V Duncan; Valérie Désilets
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  25     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2005 Apr 
Date Detail:
Created Date:  2005-05-02     Completed Date:  2005-07-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  318-21     Citation Subset:  IM    
F. Clarke Fraser Clinical Genetics Unit, Division of Medical Genetics, Department of Pediatrics, Montreal Children's Hospital, Montreal, Québec H3H 1P3, Canada.
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MeSH Terms
Anticonvulsants / therapeutic use*
Cells, Cultured
Chromosome Deletion
Chromosome Fragile Sites / drug effects,  genetics*
Chromosome Fragility / drug effects,  genetics*
Chromosomes, Human, Pair 10*
Epilepsy / drug therapy
Methylenetetrahydrofolate Reductase (NADPH2) / genetics
Phenytoin / therapeutic use*
Polymerase Chain Reaction
Polymorphism, Genetic
Pregnancy Complications / drug therapy
Reg. No./Substance:
0/Anticonvulsants; 57-41-0/Phenytoin; EC Reductase (NADPH2)

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