UNILATERAL CLEFT-LIP IN A BOY WITH ANGELMAN SYNDROME

Authors
ROSBY O STROMME P SANDSMARK M RAMSTAD K ORMEROD E VANDERHAGEN CB KUBOTA T LEDBETTER DH ORSTAVIK KH
Citation
O. Rosby et al., UNILATERAL CLEFT-LIP IN A BOY WITH ANGELMAN SYNDROME, Journal of craniofacial genetics and developmental biology, 16(2), 1996, pp. 122-125
Citations number
13
Categorie Soggetti
Genetics & Heredity","Developmental Biology","Anatomy & Morphology
Journal title
Journal of craniofacial genetics and developmental biology → ACNP
ISSN journal
02704145
Volume
16
Issue
2
Year of publication
1996
Pages
122 - 125
Database
ISI
SICI code
0270-4145(1996)16:2<122:UCIABW>2.0.ZU;2-M
Abstract
We report on a mentally retarded boy with epileptic seizures, microcep haly, ataxia. and developmental delay. His clinical features were cons istent with Angelman syndrome, Fluorescent in situ hybridization and D NA analysis showed a deletion of chromosome 15 q11-13 and thus confirm ed the diagnosis. In addition, thr patient had a unilateral, incomplet e cleft lip, a feature which has not previously been reported in Angel man syndrome.