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.
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
A F
AF
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914.
Cohen
M M
MM
Hood
J
J
Morsey
S
S
Walters
M
M
Kennedy
J L
JL
Jabs
E W
EW
D000168:Acrocephalosyndactylia / Q000235:genetics*; D000328:Adult; D002889:Chromosomes, Human, Pair 2; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic