CHARGE association in a child with de novo inverted duplication (14)(q22-->q24.3)

Am J Med Genet. 1995 Jul 17;57(4):610-4. doi: 10.1002/ajmg.1320570419.


We report on a 4-1/2 year old girl with apparent CHARGE association who had a de novo inverted duplication (14)(q22-->24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child, Preschool
  • Chromosome Inversion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14*
  • Female
  • Humans
  • Karyotyping
  • Multigene Family*