title: Monosomy 21: a new case confirmed by in situ hybridization.
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.
mesh_terms: D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009006:Monosomy; D009693:Nucleic Acid Hybridization