CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11)

Am J Med Genet. 2001 Mar 1;99(2):115-9. doi: 10.1002/1096-8628(2000)9999:999<00::aid-ajmg1126>;2-8.


A 3-year-old boy was diagnosed with CHARGE association on the basis of bilateral choanal atresia, absence of the semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, and facial anomalies. Ophthalmologic and cardiac evaluations were normal. He was found to have an apparently balanced t(2;7)(p14;q21.11) chromosomal translocation. Parental karyotypes were normal. Although there is evidence suggesting a genetic basis for CHARGE association, individuals with chromosomal abnormalities and CHARGE are rare. In the described patient, the presence of characteristic CHARGE features suggests that the t(2;7)(p14;q21.11) translocation breakpoints may cause a deletion or disruption of genes within the involved regions that are involved in the generation of the CHARGE association phenotype.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Central Nervous System / abnormalities
  • Child, Preschool
  • Choanal Atresia / diagnostic imaging
  • Choanal Atresia / genetics*
  • Chromosomes, Human, Pair 2*
  • Chromosomes, Human, Pair 7*
  • Coloboma
  • Ear, Inner / abnormalities*
  • Genitalia, Male / abnormalities
  • Growth Disorders
  • Heart Defects, Congenital
  • Humans
  • Karyotyping
  • Male
  • Tomography, X-Ray Computed
  • Translocation, Genetic*