{Reference Type}: Case Reports
{Title}: Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.
{Author}: Mimaki M;Shiihara T;Watanabe M;Hirakata K;Sakazume S;Ishiguro A;Shimojima K;Yamamoto T;Oka A;Mizuguchi M;
{Journal}: Brain Dev
{Volume}: 37
{Issue}: 7
{Year}: Aug 2015
{Factor}: 2.272
{DOI}: 10.1016/j.braindev.2014.10.009
{Abstract}: 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.