Ｘ染色体‐常染色体転座を伴った女性Ｄｕｃｈｅｎｎｅ型（あるいはＢｅｃｋｅｒ型）筋ジストロフィー

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書誌事項

タイトル別名
  • X-a translocation in female duchenne muscular dystrophy.
  • (あるいはBecker型)筋ジストロフィー

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抄録

Remarkable progress of cytogenetic study and technique provided an information on the contribution of detectable structural abnormalities of X-chromosome.<br>In particular, cases of female Ducheinne muscular dystrophy with X-autosome translocation were increasingly reported both from abroad and at home. More than 16 cases have been reported so far.<br>We report here an additional case of DMD (or BMD) in a female carrier of an apparently balanced translocation t (x; 2) (p21.2; q21.1) and studied comparatively 17 cases including present cases and discussed the significance of X-A T in female DMD.

収録刊行物

  • 医療

    医療 42 (1), 75-78, 1988

    一般社団法人 国立医療学会

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