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Omphalocele with absent radial ray (ORR): A case with diploid-triploid mixoploidy

โœ Scribed by Lin, Henry J.; Schaber, Bethann; Hashimoto, Claire H.; Barajas, Luciano; Beall, Marie H.; Lachman, Ralph S.


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
31 KB
Volume
75
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980123)75:3<235::aid-ajmg1>3.0.co;2-p

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โœฆ Synopsis


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.


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