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Partial trisomy 17q

Karyotype: 46,XY,der(21),t(17;21)(q22;p13)

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Summary

A 15-year-old deeply mentally retarded male is described with partial distal 17q trisomy (17q22→17qter), as the result of a de novo 17q/21p translocation. Differential Ag-staining showed that the satellites of chromosome 21 were included in the translocation chromosome.

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Fryns, J.P., Parloir, C. & Van den Berghe, H. Partial trisomy 17q. Hum Genet 49, 361–364 (1979). https://doi.org/10.1007/BF00569357

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  • DOI: https://doi.org/10.1007/BF00569357

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