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PMID: 131663 Published · ppublish English Journal Article Research Support, U.S. Gov't, Non-P.H.S.

Clinical diagnosis of Down's syndrome.

Clinical genetics ·Vol. 9 ·No. 5 ·1976-05-00 ·Pages 483-7

Jackson JF, North ER, Thomas JG

Abstract

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%.

MeSH Terms
Child, Preschool Chromosomes, Human, 21-22 and Y Down Syndrome/diagnosis,genetics Humans Infant Infant, Newborn Trisomy
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Jackson J F
North E R
Thomas J G
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1976-05-00
Pages
483-7
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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