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Omphalocele with absent radial ray (ORR): a case with diploid-triploid mixoploidy
H J Lin1, B Schaber, C H Hashimoto
1Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California 90502, USA.
American Journal of Medical Genetics
|February 25, 1998
Abstract:
We observed omphalocele, absence of radii, hypoplasia of one humerus, a hemivertebra, and syndactyly in a stillborn male at 22 weeks of gestation. Craniofacial and genitourinary abnormalities were absent. DNA measurement by flow cytometry on a paraffin-embedded autopsy specimen showed 32% triploid cells. ORR (omphalocele-radial ray) complex appears to be a consistent combination, and diploid-triploid mixoploidy may be one of its causes.