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 fetal skin fibroblasts or second amniotic samples after termination of the pregnancies. The measurement of ultraviolet...
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