Apparent CHARGE association and chromosome anomaly: chance or contiguous gene syndrome

Am J Med Genet. 1991 Nov 1;41(2):246-50. doi: 10.1002/ajmg.1320410223.

Abstract

This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation of a long arm deletion of chromosome 22 in patients 2 and of the frequent coexistence of CHARGE association and DiGeorge anomaly raise the possibility of a contiguous gene syndrome in at least some CHARGE cases.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Choanal Atresia / genetics*
  • Chromosome Aberrations / classification
  • Chromosome Aberrations / genetics*
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosomes, Human, Pair 2 / ultrastructure
  • Chromosomes, Human, Pair 22 / ultrastructure
  • Chromosomes, Human, Pair 3 / ultrastructure
  • Dwarfism / genetics*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Immunologic Deficiency Syndromes / genetics
  • Infant
  • Intellectual Disability / genetics*
  • Leukocyte Count
  • Male
  • Phenotype
  • Syndrome
  • T-Lymphocyte Subsets
  • Translocation, Genetic*