A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies

@inproceedings{Shah2010ARC,
  title={A rare case of complete monosomy 21 with multiple osseous, cardiac, and vascular anomalies},
  author={Manish Shah and Arie Franco and Kelly Wills and Anita S. Kulharya and Bradley S. Buckler and Jatinder J Bhatia},
  year={2010}
}
  • Manish Shah, Arie Franco, +3 authors Jatinder J Bhatia
  • Published 2010
  • Medicine
  • Abstract We report a rare case of a newborn with complete monosomy 21 prenatally diagnosed in the amniotic fluid and subsequently confirmed in other tissues. Patient presented with multiple osseous, cardiac, and vascular anomalies. Cardiac anomalies included large atrial septal defect, ventricular septal defect, aneurysm of the left pulmonary artery and patent ductus arteriosus with large bidirectional shunt. Interruption of the inferior vena cava was noted. Although interrupted inferior vena… CONTINUE READING

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    Complete monosomy 21 confirmed by FISH and array-CGH.

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