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del(13)(q32q33.2) deletion syndrome
Saturday 30 October 2010
Synopsis
fish mouth
choanal atresia
severe mental
motor retardation
Cytogenetics
del(13)(q32q33.2)
Nota bene: 13q deletion syndrome is characterized by mental and motor retardation, craniofacial dysmorphic facial appearance and various congenital malformations.
References
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