A jumping Robertsonian translocation: A molecular and cytogenetic study

Susan J. Gross, Avirachan T. Tharapel, Owen P. Phillips, Lee P. Shulman, Enikö K. Pivnick, Vicki M. Park*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


We report a patient with mosaicism for two different Robertsonian translocations, both involving chromosome 21. She carries an unbalanced cell line with an i(21q) and a balanced cell line with a rob(21q22q). She is phenotypically normal but has two children who inherited the i(21q) and have Down syndrome. We demonstrate that both abnormal chromosomes are dicentric and that the proband's 21/21 rearrangement is an isochromosome formed from a maternally derived chromosome 21. We propose a model in which the i(21q) is the progenitor rearrangement in the proband, which subsequently participated in a nonreciprocal rearrangement characteristic of a jumping translocation. In addition, we review other cases of constitutional mosaicism involving jumping translocations.

Original languageEnglish (US)
Pages (from-to)291-296
Number of pages6
JournalHuman Genetics
Issue number3
StatePublished - Aug 20 1996

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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