Familial pericentric inversion of chromosome 8

Am J Med Genet. 1981;10(3):229-35. doi: 10.1002/ajmg.1320100305.

Abstract

Eight children from seven presumably unrelated families were identified independently as having an unbalanced recombinant chromosome resulting in the presence of extra material on the short arm of a chromosome 8. Parental chromosomes were analyzed, and one member of each couple (four fathers and three mothers) was found to carry a pericentric inversion of a chromosome 8 [inv(8)(p23q22)]. The propositi had an unbalanced recombinant chromosome [rec(8),dup q,inv(8)(p23q22)]. The affected infants all had developmental delay, congenital heart disease, and unusual appearance. A common origin of the pericentric inversion was suggested because of geographic location and Mexican--American ancestry of the seven families.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Chromosome Inversion*
  • Chromosomes, Human, 6-12 and X*
  • Cryptorchidism / genetics
  • Developmental Disabilities / genetics
  • Face / abnormalities
  • Female
  • Heart Defects, Congenital / genetics
  • Hispanic or Latino
  • Humans
  • Infant
  • Karyotyping
  • Male