title: Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
abstract: This report describes a boy with Rothmund-Thomson syndrome associated with trisomy 8 mosaicism. The patient presented with typical features of Rothmund-Thomson syndrome but some of the features often seen in trisomy 8 mosaics were also observed in him. The possibility that the two disorders might share a common pathogenesis is postulated.
authors.affiliation: Division of Medical Genetics, Children's Hospital, Los Angeles, CA 90054.
authors.forename: K L
authors.initials: KL
authors.lastname: Ying
authors.forename: J
authors.initials: J
authors.lastname: Oizumi
authors.forename: C J
authors.initials: CJ
authors.lastname: Curry
mesh_terms: D002648:Child; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D008297:Male; D009030:Mosaicism; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics*; D012871:Skin Diseases / Q000235:genetics*; D014314:Trisomy