Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2)

Ann Genet. 1992;35(4):231-3.

Abstract

The 11q;22q translocations, whatever the breakpoints may be, are of particular interest because of their propensity to 3:1 segregation of the chromosomes at meiosis I. Until now, no unbalanced karyotype resulting from 2:2 adjacent segregation was published among offspring of 11q;22q translocation carriers. The authors report the case of an unbalanced karyotype due to adjacent 1 segregation of a maternal translocation (11;22)(q23.3;q13.2). The proband's karyotype was 46,XX,-22,+der(22)(11;22)(q23.3;q13.2)mat. This finding demonstrates that adjacent 1 segregation is possible in t(11;22) with breakpoints at 11q23 and 22q13, and can lead to birth of viable infants.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities
  • Chromosomes, Human, Pair 11 / ultrastructure*
  • Chromosomes, Human, Pair 22 / ultrastructure*
  • Cutis Laxa / genetics
  • Face / abnormalities
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Translocation, Genetic*