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July 1971

Congenital Asymmetry and Diploid-Triploid Mosaicism

Author Affiliations

From the departments of pediatrics and psychiatry, University of Nebraska College of Medicine and the pediatrics (Drs. Jenkins and Eisen) and genetics services (Dr. Eisen) of the University Hospital, and Ehrling Bergquist USAF Hospital (Dr. Sequin), Offutt Air Force Base, Omaha.

Am J Dis Child. 1971;122(1):80-84. doi:10.1001/archpedi.1971.02110010116024

A 9½-year-old girl with congenital asymmetry manifested by a larger right half of the body demonstrated diploid-triploid mosaicism of chromosomes from skin fibroblast cultures but normal leukocyte karyotypes. Mosaicism was found in cells from both the larger and smaller sides of her body. The association of congenital asymmetry and diploid-triploid mosaicism has been reported only twice but may be more common than previously recognized.