Microdeletion on 3p25 in a Patient With Features of 3p Deletion Syndrome

The rare 3p deletion syndrome presents with a spectrum of anomalies caused by deletions of variable lengths within the short arm of chromosome 3. While most of these deletions involve the 3p terminus, interstitial deletions may also give rise to features of the syndrome. We have detected an interstitial deletion of 643 kb in a patient who displayed many of the typical 3p deletion features. This patient had a number of findings in common with a previously reported patient, who had a 1.6 Mb interstitial deletion, including cognitive handicap, seizures, and congenital heart defects. A 518 kb region of overlap containing 12 genes may prove to be a critical region for some of these features. The putative functions of several genes, such as CRELD1, SRGAP3, CAMK1, TADA3, and MTMR14 are discussed with respect to their potential involvement in the 3p deletion syndrome phenotype. We suggest that this 518 kb area of overlap may define a critical region, which when deleted, can give rise to the 3p deletion syndrome phenotype. © 2012 Wiley Periodicals, Inc.