The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific Alu-mediated recombination (2024)

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Volume 9 Issue 10 12 June 2000
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Alexander S. Hill

Imperial Cancer Research Fund, Department of Medical Oncology, St Bartholomew’s and the Royal London School of Medicine and Dentistry, Charterhouse Square, London ECIM 6BQ, UK

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Nicola J. Foot

Imperial Cancer Research Fund, Department of Medical Oncology, St Bartholomew’s and the Royal London School of Medicine and Dentistry, Charterhouse Square, London ECIM 6BQ, UK

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Tracy L. Chaplin

Imperial Cancer Research Fund, Department of Medical Oncology, St Bartholomew’s and the Royal London School of Medicine and Dentistry, Charterhouse Square, London ECIM 6BQ, UK

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Bryan D. Young

Imperial Cancer Research Fund, Department of Medical Oncology, St Bartholomew’s and the Royal London School of Medicine and Dentistry, Charterhouse Square, London ECIM 6BQ, UK

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Human Molecular Genetics, Volume 9, Issue 10, 12 June 2000, Pages 1525–1532, https://doi.org/10.1093/hmg/9.10.1525

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12 June 2000

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    Alexander S. Hill, Nicola J. Foot, Tracy L. Chaplin, Bryan D. Young, The most frequent constitutional translocation in humans, the t(11;22)(q23;q11) is due to a highly specific Alu-mediated recombination, Human Molecular Genetics, Volume 9, Issue 10, 12 June 2000, Pages 1525–1532, https://doi.org/10.1093/hmg/9.10.1525

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Abstract

The t(11;22) is the most common recurrent non-Robertsonian constitutional translocation in humans, having been reported in more than 160 unrelated families. Balanced carriers are at risk of having offspring with the derivative 22 syndrome owing to 3:1 meiotic non-disjunction event. Clinical features of the der(22) syndrome include mental retardation, craniofacial abnormalities and congenital heart defects. The breakpoints for the t(11;22) translocation have been mapped to specific Alu repeats on chromosomes 11 and 22, indicating that this event is due to an Alu–Alu recombination. Remarkably, in five samples derived from individuals with no apparent common ancestry the der(11) and der(22) breakpoints appear to be almost identical at the genomic sequence level. The small number of base differences between the samples indicates some variation in the position of the breakpoints, although this appears to be quite limited. Indeed, the der(11) breakpoints are all located within a region of just 32 bp and the der(22) breakpoints within 21 bp. If, as suggested by current data, the widespread occurrence of this translocation is due to multiple independent events, our results suggest that this particular Alu–Alu recombination is subject to an unprecedented degree of selection.

Topic:

  • polymerase chain reaction
  • congenital heart defects
  • chromosomes
  • craniofacial abnormalities
  • dna
  • genome
  • intellectual disability
  • recombination, genetic
  • signs and symptoms
  • translocation (genetics)
  • offspring

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