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Prenatal diagnosis of genetic diseases by chorionic villi biopsy



Prenatal diagnosis of genetic diseases by chorionic villi biopsy



Journal de Genetique Humaine 34(3-4): 223-234



Chorionic villi biopsy allows first trimester prenatal diagnosis of some genetic diseases. In this study the results of 163 diagnoses are presented, and among these, 59 diagnoses of autosomal recessive metabolic diseases with 8 observations of congenital adrenal hyperplasia due to 21 OH deficiency and 6 observations of Franconi anemia.

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Accession: 006170599

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