Interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3)

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.