Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for Klinefelter syndrome

Acta Paediatr. 2012 Dec;101(12):e561-3. doi: 10.1111/apa.12008. Epub 2012 Sep 15.
No abstract available

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • DNA / genetics
  • Dried Blood Spot Testing / methods*
  • Gene Dosage
  • Humans
  • Infant, Newborn
  • Klinefelter Syndrome / blood
  • Klinefelter Syndrome / diagnosis*
  • Klinefelter Syndrome / genetics
  • Male
  • Neonatal Screening*

Substances

  • DNA