Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

Am J Med Genet. 1991 Jul 1;40(1):44-50. doi: 10.1002/ajmg.1320400109.


We report on a microcephalic, growth-retarded newborn girl without major anomalies who has chromosome instability in lymphocytes and fibroblasts. Frequent involvement of bands 7p13, 7q34, 14q11, and 14q32 suggested the diagnosis of ataxia telangiectasia (AT) or a related disorder. Supportive evidence was radioresistant DNA synthesis in fibroblasts and radiation hypersensitivity of short-term lymphocyte cultures. Follow-up for nearly 4 years showed largely normal development, and no signs of telangiectasia, ataxia, or immunodeficiency. Serum AFP levels turned from elevated at age 5 months to normal at age 2 years. We propose that our patient belongs to the expanding category of "AT-related" genetic disorders, probably to the Nijmegen breakage syndrome.

Publication types

  • Case Reports

MeSH terms

  • Cell Cycle / radiation effects
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 14*
  • Chromosomes, Human, Pair 7*
  • DNA Replication / drug effects
  • Female
  • Fetal Growth Retardation / genetics*
  • Fetal Growth Retardation / immunology
  • Fibroblasts / physiology
  • Fibroblasts / radiation effects
  • Humans
  • Immunoglobulins / analysis
  • Infant, Newborn
  • Lymphocyte Activation / radiation effects
  • Lymphocytes / immunology
  • Lymphocytes / radiation effects*
  • Microcephaly / genetics*
  • Microcephaly / immunology
  • Mitosis / radiation effects
  • Syndrome
  • X-Rays


  • Immunoglobulins