TERMINAL DELETION IN CHROMOSOME REGION 8P23.1-8PTER IN A CHILD WITH FEATURES OF VELO-CARDIO-FACIAL SYNDROME

A child with an atrial septal defect, hypernasal speech with an immobi le soft palate, learning difficulties and behavioral problems is repor ted, The clinical diagnosis in this child was velo-cardio-facial syndr ome (VCFS), but cytogenetic analysis showed the presence of a small te rminal deletion in 8p23.1-8pter. This observation shows that deletions in 8p23 may lead to features similar to VCFS. This suggests that in p atients with VCFS but without a deletion in 22q11, attention should be focussed on 8p.