１ｑ部分トリソミーの１例

DOI

書誌事項

タイトル別名
  • A case of 1q trisomy.

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説明

Chromosome analysis of the mentally and physically handicaped children revealed extra chromosome material on the short arm of chromosome no. 18 (46XX. 18p+) in a mentally retarded adult female with mildly dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome no. 1 and the short arm of chromosome no. 18. Thus this patient was trisomic for the long arm segment of chromosome no. 1, distal to q32.

収録刊行物

  • 医療

    医療 43 (11), 1207-1210, 1989

    一般社団法人 国立医療学会

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