CHARGE association in a child with de Novo chromosomal aberration 46, X,der(X)t(X;2)(p22.1;q33) detected by spectral karyotyping

J Med Genet. 2000 Dec;37(12):E47. doi: 10.1136/jmg.37.12.e47.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Child, Preschool
  • Choanal Atresia / genetics
  • Chromosome Aberrations / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Humans
  • Syndrome
  • Translocation, Genetic / genetics*
  • X Chromosome / genetics*