Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Am J Med Genet A. 2009 Nov;149A(11):2584-7. doi: 10.1002/ajmg.a.32772.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human / genetics*
  • Facies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Microsatellite Repeats / genetics
  • Mosaicism*
  • Parents
  • Phenotype
  • Pregnancy
  • Trisomy / diagnosis*
  • Trisomy / genetics*