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Article

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.

Human genetics - 1 Apr 1994

Speiser P W, White P C, Dupont J, Zhu D, Mercado A B, New M I

Abstract excerpt

The feasibility and accuracy of gene-specific molecular genetic diagnosis for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was studied in a group of 24 pregnancies at 25% risk of carrying an affected fetus. Chorionic villus sampling was performed at 9-10 weeks' gestation. South...

Topics

Adrenal Hyperplasia, Congenital
Alleles
Base Sequence
Blotting, Southern
Chorionic Villi Sampling
DNA Primers
Female
Humans
Male
Molecular Sequence Data
Nucleic Acid Hybridization
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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Identifiers

PMID: 8168813
DOI: 10.1007/BF00201668

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8168813-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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