Familial pericentric inversion of chromosome 2

J Genet Hum. 1981 Jun;29(2):161-9.

Abstract

A pericentric inversion of chromosome 2 was detected in eight members of a family ascertained via a proband with congenital jejunal atresia born of consanguineous parents. The latter affection was also present in one of his sibs. Microdensitometric analysis of the patterns of G bands of the inverted segment revealed a balanced rearrangement with unusual break points in p12 and q36; the association with the disease is apparently coincidental.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Inversion*
  • Chromosomes, Human, 1-3 / ultrastructure*
  • Consanguinity
  • Humans
  • Infant
  • Jejunal Diseases / genetics
  • Karyotyping
  • Male
  • Pedigree
  • Phenotype