CYTOGENETIC SURVEY OF APERT SYNDROME - REEVALUATION OF A TRANSLOCATION (29)(P11.2Q34.2) IN A PATIENT SUGGESTS THE BREAKPOINTS ARE NOT RELATED TO THE DISORDER

The association of Apert syndrome with a translocation (2p-;Cq+) was p reviously reported in this journal. On reexamination using high-resolu tion chromosome banding, results showed both the patient and her unaff ected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located a t or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.