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Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletions
  1. Ann M Joseph-George1,2,
  2. Yongshu He1,
  3. Christian R Marshall1,
  4. Raymond C C Wong1,
  5. Jeffrey R MacDonald1,
  6. Ciara A Fahey1,
  7. David Chitayat3,4,
  8. Kathy Chun4,5,
  9. Greg Ryan4,6,
  10. Anne M Summers5,
  11. Elizabeth J T Winsor4,7,
  12. Stephen W Scherer1,4,8
  1. 1The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
  2. 2Department of Paediatric Laboratory Medicine, Cytogenetics Laboratory, The Hospital for Sick Children, Toronto, Ontario, Canada
  3. 3Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada
  4. 4University of Toronto, Ontario, Canada
  5. 5Genetics Program, North York General Hospital, Toronto, Ontario, Canada
  6. 6Fetal Medicine Unit, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada
  7. 7Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada
  8. 8McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada
  1. Correspondence to Dr Stephen W Scherer, The Centre for Applied Genomics, The Hospital for Sick Children, 14th Floor, Toronto Medical Discovery Tower/MaRS Discovery District, 101 College Street, Toronto, Ontario, M5G 1L7, Canada; stephen.scherer{at}sickkids.ca

Footnotes

  • Dr Anne M Summers died on 14th March 2009.

  • Funding The work is supported by Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR), the McLaughlin Centre, the Canadian Institute of Advanced Research, and The Hospital for Sick Children (SickKids) Foundation.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the REB, Mt Sinai Hospital, Toronto, Ontario, Canada.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • Dr Anne M Summers died on 14th March 2009.

  • Funding The work is supported by Genome Canada/Ontario Genomics Institute, the Canadian Institutes of Health Research (CIHR), the McLaughlin Centre, the Canadian Institute of Advanced Research, and The Hospital for Sick Children (SickKids) Foundation.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the REB, Mt Sinai Hospital, Toronto, Ontario, Canada.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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