FETAL CASE OF XERODERMA PIGMENTOSUM
- 1 May 1978
- journal article
- research article
- Published by Wiley in Acta Pathologica Japonica
- Vol. 28 (3) , 459-464
- https://doi.org/10.1111/j.1440-1827.1978.tb01269.x
Abstract
Fetal autopsy case of xeroderma pigmentosum was reported. This male fetus of 24 gestational wk was prenatally diagnosed as xeroderma pigmentosum by detecting the DNA-repair defect of the amniotic fluid cells. Autopsy revealed not only maldevelopment of the fetus (stillbirth) in general for the standard but also showed slight developmental retardation of various organs including kidneys and lungs, which could be examined by microscopic analysis. Abnormality of the somatic organs apparently began to appear at the fetal stage in this case of xeroderma pigmentosum.This publication has 5 references indexed in Scilit:
- DNA-REPAIR CHARACTERISTICS AND SKIN CANCERS OF XERODERMA PIGMENTOSUM PATIENTS IN JAPAN1977
- RELATION OF D.N.A. REPAIR PROCESSES TO PATHOLOGICAL AGEING OF THE NERVOUS SYSTEM IN XERODERMA PIGMENTOSUMThe Lancet, 1976
- PRENATAL DIAGNOSIS OF XERODERMA PIGMENTOSUM: Report of the First Successful CaseThe Lancet, 1974
- Xeroderma PigmentosumAnnals of Internal Medicine, 1974
- CHROMOSOME ABERRATIONS AND DNA REPAIR SYNTHESIS IN CULTURED HUMAN CELLS EXPOSED TO NITROFURANSThe Japanese Journal of Genetics, 1973