del(13)(q32q33.2) deletion syndrome
Saturday 30 October 2010
Nota bene: 13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations.
Partial deletion of the long arm of chromosome 13 (q32q33.2) associated with mental retardation, choanal atresia and fish mouth. Balci S, Yuksel Konuk B, Atik F, Oguz AK, Ergun MA, Baltaci V, Kosyakova N, Liehr T. Genet Couns. 2010;21(3):317-24. PMID: #20964123#