Cytogenetic Survey of Apert Syndrome
- 1 December 1993
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 147 (12) , 1306-1308
- https://doi.org/10.1001/archpedi.1993.02160360048016
Abstract
• 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)Keywords
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