TY - JOUR
T1 - Cytogenetic Survey of Apert Syndrome
T2 - Reevaluation of a Translocation (2;9)(p11.2;q34.2) in a Patient Suggests the Breakpoints are not Related to the Disorder
AU - Lewanda, Amy Feldman
AU - Cohen, M. Michael
AU - Hood, Jean
AU - Morsey, Susan
AU - Walters, Melissa
AU - Kennedy, Joseph L.
AU - Jabs, Ethylin Wang
PY - 1993/12
Y1 - 1993/12
N2 - 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.
AB - 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.
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U2 - 10.1001/archpedi.1993.02160360048016
DO - 10.1001/archpedi.1993.02160360048016
M3 - Article
C2 - 8249950
AN - SCOPUS:0027331381
SN - 0096-8994
VL - 147
SP - 1306
EP - 1308
JO - American Journal of Diseases of Children
JF - American Journal of Diseases of Children
IS - 12
ER -