Translocation t(22;22)(p11.1;q11.1) and NOR studies in a female with a history of repeated fetal loss

Ann Genet. 1992;35(2):105-9.

Abstract

A 32-year-old phenotypic female with a history of nine consecutive abortions each in the first trimester was referred for cytogenetic studies. She was found to have 45,XX,t(22;22) (p11.1;q11.1) chromosomal pattern. The Ag-NOR banding technique showed that the NORs of both the acrocentrics involved in the translocation were deleted and the loss suffered from the elimination was compensated by the increased NOR activity as well as presence of dNOR on other acrocentric chromosomes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abortion, Habitual / genetics*
  • Adult
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Karyotyping
  • Nucleolus Organizer Region / ultrastructure*
  • Pedigree
  • Pregnancy
  • Translocation, Genetic / genetics*