Duplication 12q24----qter in an infant with Dandy-Walker syndrome.
A boy with the Dandy-Walker syndrome associated with multiple congenital abnormalities is described. Chromosomal analyses revealed an abnormal chromosome 21, inherited from his father who had a balanced translocation involving chromosomes 12 and 21: rcp(12;21)(q24.1;q22.1). The clinical features of this patient are compared with published descriptions for duplication 12q24----qter and a review of the literature pertaining to chromosomal anomalies found in other patients with the Dandy-Walker syndrome is presented.
D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D003616:Dandy-Walker Syndrome / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007621:Karyotyping; D008297:Male