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Acrocephalosyndactylia Associated With a Chromosomal Translocation46,XX,t(2p–; Cq+)
W. Edwin Dodson, MD;
CAPT Melvin Museles, MC, USN;
CDR Joseph L. Kennedy, Jr., MC, USNR;
Matti Al-Aish, PhD
Am J Dis Child. 1970;120(4):360-362.
Abstract
An infant with typical acrocephalosyndactylia was found to have a consistently present deletion-translocation of the short arms of chromosome 2 to the long arms of one of the chromosomes in the 11-12 group, a karyotype of 46,XX,t (2p–; Cq+). This patient brings the total reported number of abnormal karyotypes in ACS to four of the 24 patients studied cytogenetically. All chromosome anomalies previously described in ACS also involve group A, but all involve different structural rearrangements.
Author Affiliations
Bethesda, Md
From the Children's Diagnostic and Study Branch, National Institute of Child Health and Human Development, National Institutes of Health (Drs. Dodson and Al-Aish); and the Department of Pediatrics, National Naval Medical; Center, Bethesda, Md.
Footnotes
Received for publication April 29, 1970.
Reprint requests to the Children's Diagnostic and Study Branch, National Institute of Child Health and Human Development, National Institutes of Health, NNMC Bldg 125, Room 1, Bethesda, Md 20014 (Dr. Al-Aish).
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ABSTRACT
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