Article
Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.
Prenatal diagnosis - 1 Oct 1994
Cleaver J E, Volpe J P, Charles W C, Thomas G H
Abstract excerpt
In a study of fetal cells from a series of 12 pregnancies in ten families at risk for the ultraviolet light-sensitive, DNA repair-deficient diseases xeroderma pigmentosum (XP) and Cockayne syndrome (CS), we detected one XP and two CS homozygote fetuses. The diagnoses were confirmed by analysis of...
Topics
- Amniocentesis
- Amnion
- Cell Survival
- Cells, Cultured
- Chorion
- Chorionic Villi Sampling
- Cockayne Syndrome
- DNA
- DNA Repair
- Female
- Fetal Diseases
- Fibroblasts
- Homozygote
- Humans
- Mutation
- Pregnancy
- Prenatal Diagnosis
- RNA