%0 Case Reports
%T Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.
%A Mimaki M
%A Shiihara T
%A Watanabe M
%A Hirakata K
%A Sakazume S
%A Ishiguro A
%A Shimojima K
%A Yamamoto T
%A Oka A
%A Mizuguchi M
%J Brain Dev
%V 37
%N 7
%D Aug 2015
%M 25454392
%F 2.272
%R 10.1016/j.braindev.2014.10.009
%X We describe two unrelated patients with terminal deletions in the long arm of chromosome 13 showing brain malformation consisting of holoprosencephaly and cerebellar vermis hypoplasia. Array comparative genomic hybridization analysis revealed a pure terminal deletion of 13q31.3q34 in one patient and a mosaic ring chromosome with 13q32.2q34 deletion in the other. Mutations in ZIC2, located within region 13q32, cause holoprosencephaly, whereas the 13q32.2q32.3 region is associated with cerebellar vermis hypoplasia (Dandy-Walker syndrome). The rare concurrence of these major brain malformations in our patients provides further evidence that 13q32.2q32.3 deletion, harboring ZIC2 and ZIC5, leads to cerebellar dysgenesis.