Article
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays.
Prenatal diagnosis - 1 Jun 1999
Chessa L, Piane M, Prudente S, Carducci C, Mazzilli M C, Pachti A, Negrini M, Narducci M G, Russo G, Frati L
Abstract excerpt
Ataxia telangiectasia (AT) is a severe autosomal recessive disease, rare but not infrequent in Italy. Owing to the seriousness of the disease, prenatal diagnosis has been attempted in the past by means of cytogenetic, biochemical, radio-biological and indirect molecular analyses. We performed the first direct molecular prenatal diagnosis of AT on a chorionic villi sample from a 37-year-old woman at the 10th week...
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