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Unusually long survival in a case of full triploidy of maternal origin

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Summary

A female newborn with full triploidy and multiple malformations, who survived for 2 months, is presented. In all examined lymphocytes and fibroblasts a 69,XXX karyotype was found. Banding studies showed the presence of one 9qh in the mother and two 9qh chromosomes in the child, indicating that the triploidy arose from the failure to expel the second polar body.

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Fryns, J.P., van de Kerckhove, A., Goddeeris, P. et al. Unusually long survival in a case of full triploidy of maternal origin. Hum Genet 38, 147–155 (1977). https://doi.org/10.1007/BF00527396

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