Monosomy 21: a new case confirmed by in situ hybridization

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

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 21*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Monosomy*
  • Nucleic Acid Hybridization