A new chromosomal instability disorder confirmed by complementation studies

Clin Genet. 1988 Jan;33(1):20-32.


Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Chromosome Fragility*
  • Chromosomes, Human, Pair 14* / ultrastructure
  • Chromosomes, Human, Pair 7* / ultrastructure
  • DNA / biosynthesis
  • DNA / drug effects
  • DNA / radiation effects
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant, Newborn
  • Karyotyping
  • Microcephaly / genetics*
  • Pigmentation Disorders / genetics*


  • DNA