Article
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Fetal diagnosis and therapy - 1 Jan 2000
Theodoropoulou M, Barta C, Szoke M, Guttman A, Staub M, Niederland T, Sólyom J, Fekete G, Sasvari-Szekely M
Abstract excerpt
OBJECTIVE: Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency (21-OHD) is the most common cause of ambiguous genitalia in females at birth. Here, we report the first prenatal diagnosis of 21-OHD by DNA analysis in Hungary. METHODS: Allele-specific amplification (ASA) of the DNA obtained by chorionic villus sampling was performed. RESULTS: The fetus had a homozygous nonsense mutation...
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