A case of 1q trisomy.

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  • 1q部分トリソミーの1例

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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.

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