Research Article

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

  1. Noriko Miyake1,2,3,17,
  2. Osamu Shimokawa1,3,4,
  3. Naoki Harada1,3,4,
  4. Nadia Sosonkina1,3,
  5. Aiko Okubo1,
  6. Hiroki Kawara4,
  7. Nobuhiko Okamoto5,
  8. Kenji Kurosawa6,
  9. Hiroshi Kawame7,
  10. Mie Iwakoshi8,
  11. Tomoki Kosho9,
  12. Yoshimitsu Fukushima9,
  13. Yoshio Makita10,
  14. Yuji Yokoyama11,
  15. Takanori Yamagata12,
  16. Mitsuhiro Kato13,
  17. Yoko Hiraki14,
  18. Masayo Nomura1,3,
  19. Ko-ichiro Yoshiura1,3,
  20. Tatsuya Kishino3,15,
  21. Tohru Ohta3,16,
  22. Takeshi Mizuguchi3,17,
  23. Norio Niikawa1,3,
  24. Naomichi Matsumoto3,17,*

Article first published online: 17 JAN 2006

DOI: 10.1002/ajmg.a.31098

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 140A, Issue 3, pages 205–211, 1 February 2006

Additional Information

How to Cite

Miyake, N., Shimokawa, O., Harada, N., Sosonkina, N., Okubo, A., Kawara, H., Okamoto, N., Kurosawa, K., Kawame, H., Iwakoshi, M., Kosho, T., Fukushima, Y., Makita, Y., Yokoyama, Y., Yamagata, T., Kato, M., Hiraki, Y., Nomura, M., Yoshiura, K.-i., Kishino, T., Ohta, T., Mizuguchi, T., Niikawa, N. and Matsumoto, N. (2006), BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am. J. Med. Genet., 140A: 205–211. doi: 10.1002/ajmg.a.31098

Author Information

  1. 1

    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

  2. 2

    Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan

  3. 3

    CREST, Japan Science and Technology Agency, Kawaguchi, Japan

  4. 4

    Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan

  5. 5

    Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan

  6. 6

    Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan

  7. 7

    Division of Medical Genetics, Nagano Children Hospital, Minamiazumi-gun, Japan

  8. 8

    Nishinomiya Municipal Wakaba-en, Nishinomiya, Japan

  9. 9

    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan

  10. 10

    Department of Pediatrics, Asahikawa Medical Collage, Asahikawa, Japan

  11. 11

    Department of Pediatrics, Faculty of Medicine, Okayama University Medical School, Okayama, Japan

  12. 12

    Department of Pedicatrics, Jichi Medical School, Kawachi-gun, Japan

  13. 13

    Department of Pedicatrics, Yomagata University School of Medicine, Yamagata, Japan

  14. 14

    Hiroshima Municipal Center for Child Health and Development, Hiroshima, Japan

  15. 15

    Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University, Nagasaki, Japan

  16. 16

    The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Ishikari-tobetsu, Japan

  17. 17

    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

*Department of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.

Publication History

  1. Issue published online: 20 JAN 2006
  2. Article first published online: 17 JAN 2006
  3. Manuscript Accepted: 29 NOV 2005
  4. Manuscript Received: 18 AUG 2005

Funded by

  • The Ministry of Education, Culture, Sports, Science, and Technology of Japan. Grant Number: 16390101
  • The Ministry of Health, Labour and Welfare. Grant Number: 15B-4
  • CREST from Japan Science and Technology Agency (JST)

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Keywords:

  • mental retardation;
  • BAC array CGH;
  • FISH;
  • chromosomal abnormality

Abstract

Array using 2,173 BAC clones covering the whole human genome has been constructed. All clones spotted were confirmed to show a unique signal at the predicted chromosomal location by FISH analysis in our laboratory. A total of 30 individuals with idiopathic mental retardation (MR) were analyzed by comparative genomic hybridization using this array. Three deletions, one duplication, and one unbalanced translocation could be detected in five patients, which are likely to contribute to MR. The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs). © 2006 Wiley-Liss, Inc.

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