Centromeric instability of chromosomes 1, 9, and 16 associated with combined immunodeficiency

Hum Genet. 1981;57(1):108-10. doi: 10.1007/BF00271181.

Abstract

Instability of the centromeric regions of chromosomes 1, 9, and 16 in cultured lymphocytes of an 8-month-old girl with malabsorption and combined immunodeficiency is reported. Together with the two previous reports on this condition, the present report seems to confirm the specific association of combined immunodeficiency and centromeric instability of chromosomes 1, 9, and 16 with multibranching.

Publication types

  • Case Reports

MeSH terms

  • Cells, Cultured
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosomes, Human, 1-3*
  • Chromosomes, Human, 16-18*
  • Chromosomes, Human, 6-12 and X*
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Karyotyping
  • Lymphocytes / cytology
  • Malabsorption Syndromes / genetics