Clinical diagnosis of Down's syndrome

Clin Genet. 1976 May;9(5):483-7. doi: 10.1111/j.1399-0004.1976.tb01601.x.


A physical examination checklist of 25 signs of Down's syndrome was used to predict the presence of absence of 21-trisomy in 291 individuals examined for suspected Downs syndrome. Using only total numbers of signs present, 21-trisomy was unambiguously predicted in about half those examined. Discriminant analysis using the most informative 10 signs misclassified only 11 of 169 infants aged 2 years or less, and allowed non-overlapping classification into Down's and non-Down's of almost three-fourths of suspected individuals. The risk for Down's syndrome in the overlap area was 58%.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, 21-22 and Y
  • Down Syndrome / diagnosis*
  • Down Syndrome / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Trisomy