Unilateral cleft lip in a boy with Angelman syndrome.
We report on a mentally retarded boy with epileptic seizures, microcephaly, ataxia, and developmental delay. His clinical features were consistent with Angelman syndrome. Fluorescent in situ hybridization and DNA analysis showed a deletion of chromosome 15 q11-13 and thus confirmed the diagnosis. In addition, the patient had a unilateral, incomplete cleft lip, a feature which has not previously been reported in Angelman syndrome.
Rösby
O
O
Department of Medical Genetics, Ullevål University Hospital, University of Oslo, Norway.
Strömme
P
P
Sandsmark
M
M
Ramstad
K
K
Ormerod
E
E
Birger van der Hagen
C
C
Kubota
T
T
Ledbetter
D H
DH
Orstavik
K H
KH
D017204:Angelman Syndrome / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D002971:Cleft Lip / Q000209:etiology / Q000235:genetics*; D004827:Epilepsy / Q000150:complications / Q000188:drug therapy; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D011110:Polymorphism, Genetic; D011247:Pregnancy