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

Amy Feldman Lewanda, M. Michael Cohen, Jean Hood, Susan Morsey, Melissa Walters, Joseph L. Kennedy, Ethylin Wang Jabs

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)1306-1308
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume147
Issue number12
DOIs
StatePublished - 1993

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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