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

doi:10.1001/archpedi.1993.02160360048016

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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 language	English (US)
Pages (from-to)	1306-1308
Number of pages	3
Journal	American Journal of Diseases of Children
Volume	147
Issue number	12
DOIs	https://doi.org/10.1001/archpedi.1993.02160360048016
State	Published - 1993

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1001/archpedi.1993.02160360048016

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Lewanda, A. F., Cohen, M. M., Hood, J., Morsey, S., Walters, M., Kennedy, J. L., & Jabs, E. W. (1993). 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. American Journal of Diseases of Children, 147(12), 1306-1308. https://doi.org/10.1001/archpedi.1993.02160360048016

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. / Lewanda, Amy Feldman; Cohen, M. Michael; Hood, Jean et al.
In: American Journal of Diseases of Children, Vol. 147, No. 12, 1993, p. 1306-1308.

Research output: Contribution to journal › Article › peer-review

Lewanda, AF, Cohen, MM, Hood, J, Morsey, S, Walters, M, Kennedy, JL & Jabs, EW 1993, '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', American Journal of Diseases of Children, vol. 147, no. 12, pp. 1306-1308. https://doi.org/10.1001/archpedi.1993.02160360048016

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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

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