Research Article

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization†

  1. Cheryl DeScipio1,*,
  2. Laura Conlin2,
  3. Jill Rosenfeld3,
  4. James Tepperberg4,
  5. Romela Pasion4,
  6. Ankita Patel5,
  7. Marie T. McDonald6,
  8. Swaroop Aradhya7,
  9. Darlene Ho7,
  10. Jennifer Goldstein6,
  11. Marianne McGuire8,
  12. Surabhi Mulchandani2,
  13. Livija Medne2,
  14. Rosemarie Rupps9,
  15. Alvaro H. Serrano8,
  16. Erik C. Thorland10,
  17. Anne C.-H. Tsai11,
  18. Yvonne Hilhorst-Hofstee12,
  19. Claudia A.L. Ruivenkamp12,
  20. Hilde Van Esch13,
  21. Marie-Claude Addor14,
  22. Danielle Martinet14,
  23. Thornton B.A. Mason15,
  24. Dinah Clark2,
  25. Nancy B. Spinner2,16,
  26. Ian D. Krantz2

Article first published online: 27 JUL 2012

DOI: 10.1002/ajmg.a.35574

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 158A, Issue 9, pages 2152–2161, September 2012

Additional Information

How to Cite

DeScipio, C., Conlin, L., Rosenfeld, J., Tepperberg, J., Pasion, R., Patel, A., McDonald, M. T., Aradhya, S., Ho, D., Goldstein, J., McGuire, M., Mulchandani, S., Medne, L., Rupps, R., Serrano, A. H., Thorland, E. C., Tsai, A. C.-H., Hilhorst-Hofstee, Y., Ruivenkamp, C. A.L., Van Esch, H., Addor, M.-C., Martinet, D., Mason, T. B.A., Clark, D., Spinner, N. B. and Krantz, I. D. (2012), Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. Am. J. Med. Genet., 158A: 2152–2161. doi: 10.1002/ajmg.a.35574

Author Information

  1. 1

    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland

  2. 2

    Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

  3. 3

    Signature Genomics, Spokane, Washington

  4. 4

    Center for Molecular Biology and Pathology, Laboratory Corporation of America, Research Triangle Park, Durham, North Carolina

  5. 5

    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

  6. 6

    Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

  7. 7

    Clinical Microarray Services, GeneDx, Gaithersburg, Maryland

  8. 8

    Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania

  9. 9

    Department of Medical Genetics, University of British Columbia, Vancouver, Canada

  10. 10

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota

  11. 11

    The Children's Hospital, Clinical Genetics, Denver, Colorado

  12. 12

    Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands

  13. 13

    Centre for Human Genetics, University Hospitals Leuven, Leuven, Belgium

  14. 14

    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland

  15. 15

    Department of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

  16. 16

    Division of Clinical Labs, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania

*Director, Prenatal Cytogenetics Laboratory, Department of Pathology, The Johns Hopkins Hospital, 600 North Wolfe Street, Park Building SB202, Baltimore, MD 21287.

  1. †

    How to Cite this Article: DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC-H, Hilhorst-Hofstee Y, Ruivenkamp CAL, Van Esch H, Addor M-C, Martinet D, Mason TBA, Clark D, Spinner NB, Krantz ID. 2012. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization. Am J Med Genet Part A. 158A:2152–2161.

Publication History

  1. Issue published online: 24 AUG 2012
  2. Article first published online: 27 JUL 2012
  3. Manuscript Accepted: 28 JUN 2012
  4. Manuscript Received: 30 DEC 2011

Funded by

  • National Institutes of Health (NIDDK) (IDK). Grant Number: 5 KO8 DK02541-02
  • Wellcome Trust

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