A familial interstitial deletion of the long arm of chromosome 21

Clin Genet. 1990 Jun;37(6):423-8. doi: 10.1111/j.1399-0004.1990.tb03525.x.


A mother and daughter with an interstitial deletion of the chromosome segment 21q11 to 21q21.3 have similar minor dysmorphism and mild mental retardation. These two patients are compared to others in the literature with deletion of the same region of chromosome 21. Molecular analysis of DNA from our patients localizes the DNA segments D21S1, D21S11, D21S8, and D21S22 within the deleted region.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21*
  • DNA Probes
  • Female
  • Humans
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Middle Aged


  • DNA Probes