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De novo trisomy 9pter→q13

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Summary

A case of de novo trisomy 9p was observed. Cytogenetic analysis of G-, R-, Q-, and C-banded preparations revealed a karyotypic description of 47,XY,+del(9)(pter→q13). In addition to the principal characteristics of the 9p trisomy syndrome, the child presented with skeletal and urogenital abnormalities. It appears that certain clinical abnormalities are due to trisomy of 9q1.

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Kardon, N.B., Salwen, H.R., Krauss, M.A. et al. De novo trisomy 9pter→q13. Hum Genet 37, 149–153 (1977). https://doi.org/10.1007/BF00393577

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