A jumping Robertsonian translocation

A molecular and cytogenetic study

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

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

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
Volume98
Issue number3
DOIs
StatePublished - Aug 20 1996

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Chromosomes, Human, Pair 21
Mosaicism
Cytogenetics
Isochromosomes
Cell Line
Down Syndrome
Chromosomes

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Gross, S. J., Tharapel, A. T., Phillips, O., Shulman, L. P., Pivnick, E. K., & Park, V. M. (1996). A jumping Robertsonian translocation: A molecular and cytogenetic study. Human genetics, 98(3), 291-296. https://doi.org/10.1007/s004390050209

A jumping Robertsonian translocation : A molecular and cytogenetic study. / Gross, Susan J.; Tharapel, Avirachan T.; Phillips, Owen; Shulman, Lee P.; Pivnick, Enikö K.; Park, Vicki M.

In: Human genetics, Vol. 98, No. 3, 20.08.1996, p. 291-296.

Research output: Contribution to journalArticle

Gross, SJ, Tharapel, AT, Phillips, O, Shulman, LP, Pivnick, EK & Park, VM 1996, 'A jumping Robertsonian translocation: A molecular and cytogenetic study', Human genetics, vol. 98, no. 3, pp. 291-296. https://doi.org/10.1007/s004390050209
Gross, Susan J. ; Tharapel, Avirachan T. ; Phillips, Owen ; Shulman, Lee P. ; Pivnick, Enikö K. ; Park, Vicki M. / A jumping Robertsonian translocation : A molecular and cytogenetic study. In: Human genetics. 1996 ; Vol. 98, No. 3. pp. 291-296.
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