Summary
A new case of total monosomy 21 in a newborn is described. The diagnosis was first made using the cytogenetic data; it was then confirmed by the dosage of copper-superoxide dismutase (SOD-1) which showed a 50% decrease. In situ hybridization with a probe previously assigned to chromosome 21 was used to rule out the possibility of a partial monosomy with an unbalanced reciprocal translocation.
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Pellissier, M.C., Philip, N., Voelckel-Baeteman, M.A. et al. Monosomy 21: a new case confirmed by in situ hybridization. Hum Genet 75, 95–96 (1987). https://doi.org/10.1007/BF00273852
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DOI: https://doi.org/10.1007/BF00273852