Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects

Am J Med Genet A. 2015 Jun;167(6):1406-8. doi: 10.1002/ajmg.a.36531. Epub 2015 Apr 21.
No abstract available

MeSH terms

  • 22q11 Deletion Syndrome / diagnosis*
  • 22q11 Deletion Syndrome / genetics
  • 22q11 Deletion Syndrome / pathology
  • Biomarkers / analysis
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Predictive Value of Tests
  • Prospective Studies
  • ROC Curve
  • Thrombocytopenia / diagnosis*
  • Thrombocytopenia / genetics
  • Thrombocytopenia / pathology

Substances

  • Biomarkers