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.
|Original language||English (US)|
|Number of pages||3|
|Journal||American Journal of Diseases of Children|
|State||Published - 1993|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health