8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

@article{Barber20088p231DS,
  title={8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH},
  author={John C K Barber and Viv K Maloney and Shuwen Huang and David Bunyan and Lara Cresswell and Esther Kinning and Anna Benson and Tim Cheetham and Jonathan Wyllie and Sally Ann Lynch and Simon A Zwolinski and Laura Prescott and Yanick J Crow and Rob Morgan and E. L. Hobson},
  journal={European Journal of Human Genetics},
  year={2008},
  volume={16},
  pages={18-27}
}
The 8p23.1 deletion syndrome is established but not an equivalent duplication syndrome. Here, we report five patients; a de novo prenatal case and two families in which 8p23.1 duplications have been directly transmitted from mothers to children. Dual-colour fluorescent in situ hybridisation, multiplex ligation-dependent probe amplification analysis and customised oligonucleotide array comparative genomic hybridisation (oaCGH) indicated an ∼3.75 Mb duplication of most of band 8p23.1 between the… CONTINUE READING

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8p23.1 and triplication at 8p23.2

  • JC Barber
  • Hum Mutat
  • 2007
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