Jumping translocation in a phenotypically normal female

Clin Genet. 1996 Mar;49(3):156-9. doi: 10.1111/j.1399-0004.1996.tb03276.x.

Abstract

"Jumping translocation" jt refers to a rare type of chromosome mosaic, in which the same portion of a (donor) chromosome is translocated to different (recipient) chromosome sites. Jt have mainly been observed in lymphocyte cultures of patients with hematologic malignancies. We report a phenotypically normal female carrying a mosaic of two cell lines with the Xq26-qter segment translocated to the short arm of chromosomes 15 or 21 in peripheral blood lymphocytes. In skin fibroblasts, only the X/21 translocation was detected. We speculate that recombination between homologous repetitive sequences on non-homologous human acrocentrics may be the cause of such chromosomal rearrangements.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosomes, Human, Pair 21
  • Developmental Disabilities / complications
  • Developmental Disabilities / genetics
  • Female
  • Heterozygote*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications
  • Intellectual Disability / genetics
  • Male
  • Pedigree
  • Phenotype
  • Pregnancy
  • Translocation, Genetic*
  • X Chromosome*