Article
Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization.
Recent progress in hormone research - 1 Jan 1994
Speiser P W, White P C, Dupont J, Zhu D, Mercado A, New M I
Abstract excerpt
The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency were studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed in the majority of cases...
Topics
- Adrenal Hyperplasia, Congenital
- Blotting, Southern
- Chorionic Villi Sampling
- DNA
- Female
- Humans
- Male
- Mutation
- Polymerase Chain Reaction
- Pregnancy
- Prenatal Diagnosis
- Steroid 21-Hydroxylase