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Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11)

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Summary

Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.

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Bonfante, A., Stella, M. & Rossi, G. Partial trisomy 4q: Two cases resulting from a familial translocation t(4;18)(q27;p11). Hum Genet 52, 85–90 (1979). https://doi.org/10.1007/BF00284601

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  • DOI: https://doi.org/10.1007/BF00284601

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