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.
Publication types
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Case Reports
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Comparative Study
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Review
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Diploidy*
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Fetal Death / diagnostic imaging
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Fetal Death / genetics
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Fetal Death / pathology
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Hernia, Umbilical / diagnostic imaging
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Hernia, Umbilical / genetics*
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Hernia, Umbilical / pathology*
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Humans
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Male
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Radiography
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Radius / abnormalities*
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Radius / diagnostic imaging