Autosomal Fragile Site at 2q13 in a Proband with Mental Retardation

• Kumada, Toshio

• Kadotani, Tetsuji

• Kanata, Suzue

• Watanabe, Yoko

• Kurosaki, Noriko

• Toi, Osam

抄録

Folate sensitive fragile site on chromosome 2q13 was detected in a female proband with mild hypertrichosis, negativism, speech disorder, and severe mental retardation. The same chromosomal aberration was also detected in her mother with normal phenotype. Spontaneous expression of fragile site on 2q13 was also observed.

収録刊行物

• Hiroshima Journal of Medical Sciences

  Hiroshima Journal of Medical Sciences 39 (1), 19-21, 1990-03

  Hiroshima University Medical Press

キーワード

• Fragile site
• Mental retardation
• Fra(2)(q13)

詳細情報

• CRID: 1050296265985069440
• NII論文ID: 120005649392
• NII書誌ID: AA00664312
• Web Site: http://ir.lib.hiroshima-u.ac.jp/00038034
• 本文言語コード: en
• 資料種別: departmental bulletin paper
• データソース種別:
  • IRDB
  • CiNii Articles