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

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 c...

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Veröffentlicht in:	American journal of medical genetics 1998-01, Vol.75 (3), p.235-239
Hauptverfasser:	Lin, Henry J., Schaber, Bethann, Hashimoto, Claire H., Barajas, Luciano, Beall, Marie H., Lachman, Ralph S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Biological and medical sciences Chromosome aberrations diploid-triploid mixoploidy Diploidy Fetal Death - diagnostic imaging Fetal Death - genetics Fetal Death - pathology Hernia, Umbilical - diagnostic imaging Hernia, Umbilical - genetics Hernia, Umbilical - pathology Humans Male Medical genetics Medical sciences omphalocele ORR (omphalocele-radial ray) complex radial ray defect Radiography Radius - abnormalities Radius - diagnostic imaging
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Zusammenfassung:	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. Am. J. Med. Genet. 75:235–239, 1998. © 1998 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19980123)75:3<235::AID-AJMG1>3.0.CO;2-P