Monosomy 21: a new case confirmed by in situ hybridization |
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| Authors: | M C Pellissier N Philip M A Voelckel-Baeteman M G Mattei J F Mattei |
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| Affiliation: | (1) INSERM U.242, Hôpital d'Enfants de la Timone, F-13385 Marseille Cedex 5, France;(2) Centre de Diagnostic Prénatal, Hôpital d'Enfants de la Timone, F-13385 Marseille Cedex 5, France |
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| Abstract: | 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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