Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.
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.
Ying
K L
KL
Division of Medical Genetics, Children's Hospital, Los Angeles, CA 90054.
Oizumi
J
J
Curry
C J
CJ
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