Research Article

Duplication of 8p23.2: A benign cytogenetic variant?

  1. Naoki Harada1,4,5,
  2. Jun Takano1,2,4,
  3. Tatsuro Kondoh3,
  4. Hirofumi Ohashi6,
  5. Tomonobu Hasegawa7,
  6. Hirobumi Sugawara1,4,8,
  7. Tomoko Ida5,
  8. Ko-ichiro Yoshiura1,4,
  9. Tohru Ohta4,9,
  10. Tatsuya Kishino4,9,
  11. Tadashi Kajii10,
  12. Norio Niikawa1,4,
  13. Naomichi Matsumoto1,4,*

Article first published online: 13 JUN 2002

DOI: 10.1002/ajmg.10584

Issue

American Journal of Medical Genetics

American Journal of Medical Genetics

Volume 111, Issue 3, pages 285–288, 15 August 2002

Additional Information

How to Cite

Harada, N., Takano, J., Kondoh, T., Ohashi, H., Hasegawa, T., Sugawara, H., Ida, T., Yoshiura, K.-i., Ohta, T., Kishino, T., Kajii, T., Niikawa, N. and Matsumoto, N. (2002), Duplication of 8p23.2: A benign cytogenetic variant?. American Journal of Medical Genetics, 111: 285–288. doi: 10.1002/ajmg.10584

Author Information

  1. 1

    Departments of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan

  2. 2

    Otolaryngology, Nagasaki University School of Medicine, Nagasaki, Japan

  3. 3

    Pediatrics, Nagasaki University School of Medicine, Nagasaki, Japan

  4. 4

    CREST, Japan Science and Technology Corporation (JST), Kawaguchi, Japan

  5. 5

    Kyushu Medical Science Nagasaki Laboratory, Nagasaki, Japan

  6. 6

    Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan

  7. 7

    Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan

  8. 8

    Department of Orthopedic Surgery, Yamagata University School of Medicine, Yamagata, Japan

  9. 9

    Gene Research Center, Nagasaki University, Nagasaki, Japan

  10. 10

    Hachi-oji, Japan

*Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.

Publication History

  1. Issue published online: 24 JUL 2002
  2. Article first published online: 13 JUN 2002
  3. Manuscript Accepted: 12 APR 2002
  4. Manuscript Received: 3 MAR 2002

Funded by

  • CREST of Japan Science and Technology Corporation (JST for N.N., and Inamori Foundation for N.M.)

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Keywords:

  • 8p23.2 duplication;
  • duplication polymorphism;
  • benign variant

Abstract

We describe a duplication of the 8p23.2 band in seven individuals from four families. The duplication was recognizable as an enlarged 8p23.2 band on G-banded chromosomes at the 550 band level. It was transmitted from a parent to offspring in three of the four families in which both parents were karyotyped. Each proband in the four families had the enlarged band and showed various phenotypic abnormalities, but the abnormalities were inconsistent. Chromosomal and interphase fluorescence in situ hybridization (FISH) analysis of the enlarged band region defined a 2.5-Mb duplicated segment common to all seven individuals studied. Interphase FISH analysis of peripheral blood lymphocytes from 50 unrelated normal individuals showed the duplication in three individuals. In view of these findings, it is most likely that the 8p23.2 duplication we described is a normal variant. © 2002 Wiley-Liss, Inc.

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