Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder

A. F. Lewanda, M. M. Cohen Jr, J. Hood, S. Morsey, M. Walters, J. L. Kennedy Jr and E. W. Jabs
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914.

The association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected 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 at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.