Interstitial deletion of the long arm of chromosome 3, del (3) (q25-q27), in association with Dandy Walker malformation: A case report

Interstitial deletions of the long arm of chromosome 3 are rare, and detailed genotype-phenotype correlations are not well established. The Dandy-Walker malformation (DWM) is one of the most common congenital cerebellar defects and can be associated with multiple congenital anomalies and chromosomal syndromes. We report an interstitial deletion of 3q: 46, XY, del (3) (q25; q27) in a Three-month-old boy with dysmorphic features, developmental delay, and a Dandy Walker malformation observed in MRI.