• 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.
Lewanda AF, Cohen MM, Hood J, et al. 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. Am J Dis Child. 1993;147(12):1306–1308. doi:10.1001/archpedi.1993.02160360048016
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