Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization

Hum Genet. 1988 Nov;80(3):277-81. doi: 10.1007/BF01790097.

Abstract

Two cases of trisomy 21q223 with the Down's phenotype were analysed by in situ hybridization with specific probes previously located in the sub-bands 21q221 (SOD-A) and 21q223 (BCEI and COL6A). These studies give evidence that the clinical picture of Down's syndrome is at least to a great extent correlated with trisomy for the 21q223 band.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosome Banding
  • Chromosomes, Human, Pair 21*
  • DNA / genetics*
  • Down Syndrome / diagnosis
  • Down Syndrome / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Nucleic Acid Hybridization*
  • Phenotype

Substances

  • DNA