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Prognosis of mosaic Down syndrome (cytogenetic analysis, clinical findings, childcare, education and social adaptation)

Research Project

Project/Area Number 18K02497
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 09030:Childhood and nursery/pre-school education-related
Research InstitutionTokyo Kasei University

Principal Investigator

Takano Takako  東京家政大学, 家政学部, 教授 (50236246)

Project Period (FY) 2018-04-01 – 2021-03-31
Project Status Completed (Fiscal Year 2020)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2020: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywordsモザイク型ダウン症候群 / モザイク率 / 染色体分析 / ダウン症候群 / モザイク型 / 染色体検査 / モザイク / 標準型 / トリソミー21 / 21トリソミー / FISH / 口腔粘膜細胞 / 染色体 / 細胞遺伝 / 社会適応
Outline of Final Research Achievements

Cytogenetic analysis of five patients with mosaic Down syndrome (one male and four females) was carried out. G-banding and chromosome 21 fluorescence in situ hybridization (No.21 FISH) of peripheral blood cultures in four patients aged 7-23 years showed a sharp decrease in mosaicism. No.21 FISH of uncultured cells also showed a significant decrease in mosaicism. The mosaic ratio was gradually but not drastically reduced in one young child at 11 months, 2 years 9 months and 3 years 3 months of age. No. 21 FISH of oral mucosa cells (5 children) and fibroblasts cultures from tooth extraction (2 children) showed no decrease in mosaicism. The same analyses were performed in seven patients with standard trisomy 21 and one patient with translocation, all of whom maintained nearly 100% trisomy 21 cells on chromosome examination.
The clinical findings, upbringing history, education and employment status of five patients with mosaic Down syndrome were also investigated.

Academic Significance and Societal Importance of the Research Achievements

モザイク型ダウン症患者の培養Bリンパ球と骨髄から流血中に出てきた血球細胞において、モザイク率は7歳以降で激減していた(3~8%)。3歳までは徐々にトリソミー細胞が漸減傾向にあった。造血系細胞以外の組織では、モザイク率の減少はなく、これらは学術的に新しい知見である。骨髄の中で、造血幹細胞は低酸素の微小環境(ニッチ)に存在している。骨髄中の低酸素環境はトリソミー細胞にとっては正常細胞より生存に不利に働く可能性があり、モザイク率が時間経過により減少すると推定した。
モザイク患者の生育歴、発達状況、教育・就労状況の結果は、モザイク型ダウン症患者の保育・教育、遺伝カウンセリングに資する知見と考えられる。

Report

(4 results)
  • 2020 Annual Research Report   Final Research Report ( PDF )
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (12 results)

All 2021 2020 2019 2018

All Journal Article (4 results) (of which Peer Reviewed: 3 results,  Open Access: 1 results) Presentation (6 results) (of which Int'l Joint Research: 2 results,  Invited: 2 results) Book (2 results)

  • [Journal Article] Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.2020

    • Author(s)
      Takako Takano, Kazuhiko Nakabayashi, Hideomi Ota, Yasuhiro Arai, Hiromi Kamura,Kenichiro Hata
    • Journal Title

      European Journal of Medical Genetics

      Volume: 63(4) Issue: 4 Pages: 103824-103824

    • DOI

      10.1016/j.ejmg.2019.103824

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Down症候群2020

    • Author(s)
      高野貴子
    • Journal Title

      今日の臨床サポート 改訂第4版 (電子版2020/5/15)

      Volume: オンライン

    • Related Report
      2019 Research-status Report
  • [Journal Article] 大学内の障害児通所療育施設「わかくさグループ」の療育の変遷2019

    • Author(s)
      片口桂、高野貴子
    • Journal Title

      小児の精神と神経

      Volume: 59

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Sex differences in congenital heart disease in Down syndrome: Study data from medical records and questionnaires in a region of Japan2019

    • Author(s)
      Takako Takano, Michio Akagi, Haruyoshi Takaki et al.
    • Journal Title

      BMJ Paediatrics Open

      Volume: 3 Issue: 1 Pages: 1-3

    • DOI

      10.1136/bmjpo-2018-000414

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 発達障害と遺伝の考え方2020

    • Author(s)
      高野貴子
    • Organizer
      2020年度発達障害医学オンラインセミナー
    • Related Report
      2020 Annual Research Report
    • Invited
  • [Presentation] Sex differences in congenital heart disease in Japanese Down Syndrome.2020

    • Author(s)
      Takako Takano
    • Organizer
      14th International Conference on Pediatric Neonatal Healthcare
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21) in a severely psychomotor-retarded female without Down syndrome phenotype.2019

    • Author(s)
      Takako Takano, Kazuhiko Nakabayashi, Hideomi Ota, Yasuhiro Arai, Hiromi Kamura, Kenichiro Hata
    • Organizer
      European Human Genetics Conference (ESHG 2019)
    • Related Report
      2019 Research-status Report
    • Int'l Joint Research
  • [Presentation] Down症候群に合併する先天性心疾患の性差(第3報)2019

    • Author(s)
      赤木美智男、高野貴子、高木晴良、萩原教文、犬塚亮、金子正英、小野博、野木森宣嗣
    • Organizer
      日本小児科学会第122回学術集会
    • Related Report
      2018 Research-status Report
  • [Presentation] 大学内の障害児通所療育施設「わかくさグループ」の療育の実践2018

    • Author(s)
      片口桂、高野貴子
    • Organizer
      第119回日本小児精神神経学会
    • Related Report
      2018 Research-status Report
  • [Presentation] 保育現場でのプレパレーションの応用2018

    • Author(s)
      高野貴子、内城美咲子
    • Organizer
      第65回日本小児保健協会学術集会
    • Related Report
      2018 Research-status Report
  • [Book] 発達障害医学の進歩 33(発達障害者にみられる内科的な併存症の理解と対応)2021

    • Author(s)
      高野貴子ほか(古荘純一編)
    • Total Pages
      88
    • Publisher
      日本発達障害連盟
    • ISBN
      9784902448078
    • Related Report
      2020 Annual Research Report
  • [Book] 小児科診療ガイドライン 第4版2019

    • Author(s)
      高野貴子
    • Total Pages
      758
    • Publisher
      総合医学社
    • ISBN
      9784883786725
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2022-01-27  

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