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FISH for Pre-implantation Genetic Diagnosis
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Jumping translocations in spontaneous abortions.

B Levy1, T M Dunn, K Hirschhorn

  • 1Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. Brynn.Levy@mssm.edu

Cytogenetics and Cell Genetics
|April 25, 2000
PubMed
Summary

Jumping translocations (JTs), rare chromosome rearrangements, were identified in spontaneous abortions. These unstable JTs likely caused fetal loss due to resulting chromosomal imbalance.

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Area of Science:

  • Genetics
  • Cytogenetics
  • Reproductive Biology

Background:

  • Jumping translocations (JTs) involve one donor chromosome and multiple recipient chromosomes.
  • Acquired JTs are common in cancer; constitutional JTs are linked to syndromes like Down syndrome.
  • JTs have not been previously described in spontaneous abortions.

Purpose of the Study:

  • To report the first instances of jumping translocations (JTs) in spontaneous abortions.
  • To characterize the chromosomal breakpoints and instability regions in these JTs.
  • To explore the potential role of JTs in fetal loss.

Main Methods:

  • Analysis of chromosomal rearrangements in samples from spontaneous abortions.
  • Fluorescence in situ hybridization (FISH) studies to confirm breakpoint locations.
  • Karyotyping to identify specific translocations and chromosomal abnormalities.

Main Results:

  • Two cases of unstable chromosome rearrangements consistent with JTs were identified in spontaneous abortions.
  • The first case involved a chromosome 15 donor with multiple recipient chromosomes (1, 9, 15, 21) and centromeric/heterochromatic breakpoints.
  • The second case showed instability with a presumed de novo 8;21 translocation, resulting in deleted 8p, dicentric 8;21, and 8q isochromosome, with breakpoints in pericentromeric and satellite regions.

Conclusions:

  • Jumping translocations (JTs) can occur in spontaneous abortions and are associated with chromosomal instability.
  • The chromosomal imbalance resulting from these de novo JTs likely led to fetal loss.
  • JTs may be an unrecognized cause of recurrent or unexplained fetal loss, potentially through nondisjunction and rearrangement.