The first interstitial deletion in III 6 expanded approximately 2.89 Mb in 5p15.31p15.33, encoding 11 known genes including LOC340094, ADAMTS16, KIAA0947, FLJ33360, MED10, UBE2QL1, LOC255167, NSUN2, SRD5A1, PAPD7 and MIR4278. Of these, haploinsufficiency of SRD5A1 along with other genes in 5p15.1 region [28] are recently reported to be associated with hypospadias and cerebellar hypoplasia in a prenatal study. Here, ADAMTS16 is linked to Cerebellar hypoplasia.