title: 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.
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.
authors.affiliation: Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914.
authors.forename: A F
authors.initials: AF
authors.lastname: Lewanda
authors.forename: M M
authors.initials: MM
authors.lastname: Cohen
authors.forename: J
authors.initials: J
authors.lastname: Hood
authors.forename: S
authors.initials: S
authors.lastname: Morsey
authors.forename: M
authors.initials: M
authors.lastname: Walters
authors.forename: J L
authors.initials: JL
authors.lastname: Kennedy
authors.forename: E W
authors.initials: EW
authors.lastname: Jabs
mesh_terms: 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