Unilateral cleft lip in a boy with Angelman syndrome

Autor:	O, Rösby, P, Strömme, M, Sandsmark, K, Ramstad, E, Ormerod, C, Birger van der Hagen, T, Kubota, D H, Ledbetter, K H, Orstavik
Rok vydání:	1996
Předmět:	Male Chromosomes Human Pair 15 Epilepsy Polymorphism Genetic Cleft Lip Infant Newborn Pregnancy Child Preschool Face Intellectual Disability Microcephaly Humans Female Angelman Syndrome Chromosome Deletion In Situ Hybridization Fluorescence
Zdroj:	Journal of craniofacial genetics and developmental biology. 16(2)
ISSN:	0270-4145
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::814bf86711c3cf63624525e8301514ab https://pubmed.ncbi.nlm.nih.gov/8773903 Zobrazit plný text záznamu