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Case Reports
. 1987 Jan;75(1):95-6.
doi: 10.1007/BF00273852.

Monosomy 21: a new case confirmed by in situ hybridization

M C Pellissier, N Philip, M A Voelckel-Baeteman, M G Mattei, J F Mattei
Case Reports

Monosomy 21: a new case confirmed by in situ hybridization

M C Pellissier et al. Hum Genet. 1987 Jan.

Abstract

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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References

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