Delineation of a clinical syndrome caused by mosaic trisomy 15.
We report on a boy with mosaic trisomy 15. The clinical manifestations are compared with those of the few cases reported up to now. A clinical syndrome is delineated consisting of a characteristic shape of the nose and other minor craniofacial anomalies, as well as typical deformities of the hands and feet. Different degrees of mosaicism may explain the more or less severe manifestations in individual patients.
Bühler
E M
EM
Department of Medical Genetics, University Children's Hospital, Basel, Switzerland.
Bienz
G
G
Straumann
E
E
Bösch
N
N
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002478:Cells, Cultured; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D006801:Humans; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D013577:Syndrome; D014314:Trisomy