{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:53:20Z","timestamp":1761310400378},"reference-count":32,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2005,11,22]],"date-time":"2005-11-22T00:00:00Z","timestamp":1132617600000},"content-version":"vor","delay-in-days":4070,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a study of fetal cells from a series of 12 pregnancies in ten families at risk for the ultraviolet light\u2010sensitive, DNA repair\u2010deficient 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 light sensitivity and DNA repair depended on properties common to the seven excision repair\u2010deficient XP complementation groups (A\u2010G) and the two CS complementation groups (A, B). No XP variant families were included in the study, because the variant requires different testing techniques. Reliable and rapid diagnosis proved possible in all but one of the 12 pregnancies, supporting the use of these methods until the spectrum of mutations in the various XP and CS genes of the U. S. population is fully characterized and a DNA sequence\u2010based diagnostic procedure becomes available.<\/jats:p>","DOI":"10.1002\/pd.1970141005","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T06:51:35Z","timestamp":1172991095000},"page":"921-928","source":"Crossref","is-referenced-by-count":25,"title":["Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome"],"prefix":"10.1002","volume":"14","author":[{"given":"James E.","family":"Cleaver","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John P. G.","family":"Volpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayne C.","family":"Charles","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gregory H.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,22]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"181","article-title":"Prenatal exclusion of xeroderma pigmentosum (XP\u2010D) by amniotic cell analysis","volume":"3","author":"Arase S.","year":"1985","journal-title":"Photo\u2010Dermatology"},{"key":"e_1_2_1_3_1","first-page":"198","article-title":"Prenatal diagnosis of xeroderma pigmentosum (Letter)","volume":"40","author":"Barthelemy H.","year":"1983","journal-title":"Arch. Fr. 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