A CGH study of 27 patients with CHARGE association

Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x.


CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness. The cause of this association remains unknown. Various genetic mechanisms have been proposed, including a contiguous gene syndrome but, so far, no recurrent locus has been identified. To address this question, we decided to perform a comparative genomic hybridization (CGH) study on a cohort of 27 patients with CHARGE association and a normal standard karyotype. We found two chromosomal anomalies: a der(9)t(9;13) derived from a paternal translocation and a der(6)t(4;6) of unknown origin. This suggests that chromosome imbalances may well mimic CHARGE association. Therefore patients with CHARGE association must be carefully tested with classical and molecular cytogenetic techniques to detect a potential chromosome imbalance. It is expected that more stringent diagnostic criteria of CHARGE association could define a more homogeneous group of patients where a single genetic cause might be identified.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Choanal Atresia / genetics*
  • Chromosome Aberrations*
  • Chromosomes / ultrastructure
  • Cohort Studies
  • Coloboma / genetics
  • Ear / abnormalities
  • Female
  • Genitalia / abnormalities
  • Growth Disorders / genetics
  • Heart Defects, Congenital / genetics
  • Homozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization*
  • Syndrome