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December 1993

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

Author Affiliations

From the Departments of Pediatrics, Medicine, and Surgery (Drs Lewanda and Jabs), Center for Medical Genetics, The Johns Hopkins School of Medicine, and The Kennedy-Krieger Institute (Mss Morsey and Walters), Baltimore, Md; the Departments of Oral Biology and Pediatrics, Dalhousie University, Halifax, Nova Scotia (Dr Cohen); the Department of Pediatrics, Section of Genetics, East Carolina University School of Medicine, Greenville, NC (Dr Hood); and the Department of Pediatrics, Division of Neonatology, St Margaret's Hospital for Women, Boston, Mass (Dr Kennedy).

Am J Dis Child. 1993;147(12):1306-1308. doi:10.1001/archpedi.1993.02160360048016

• 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.

(AJDC. 1993;147:1306-1308)