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Trisomy 21

Molecular and Cytogenetic Studies of Nondisjunction
  • Gordon D. Stewart
  • Terry J. Hassold
  • David M. Kurnit
Chapter
Part of the Advances in Human Genetics book series (AHUG, volume 17)

Abstract

Chromosomal imbalance is the leading known cause of mental retardation (Smith and Berg, 1976), spontaneous abortion (Boué et al, 1975; Carr and Gedeon, 1978; Hassold et al, 1978), and congenital heart defects in man (Rowe and Uchida, 1961; Tandon and Edwards, 1973; Park et al, 1977). Our understanding of nondisjunction is at a crossroads. Recent advances in molecular genetics and cytogenetics have afforded glimpses into the mechanisms of nondisjunction in man, and these advances will soon enable us to determine how and why nondisjunction for chromosome 21 occurs. This review has an agnostic, but optimistic, outlook. We feel that few fundamental questions relevant to nondisjunction for chromosome 21 have been resolved, but that the protocols and techniques required to obtain fundamental answers are at hand.

Keywords

Down Syndrome Parental Origin Pericentromeric Region Acrocentric Chromosome Chiasma Frequency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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© Plenum Press, New York 1988

Authors and Affiliations

  • Gordon D. Stewart
    • 1
  • Terry J. Hassold
    • 2
  • David M. Kurnit
    • 3
  1. 1.Department of Pediatrics Howard Hughes Medical InstituteUniversity of Michigan Medical CenterAnn ArborUSA
  2. 2.Division of Medical GeneticsEmory UniversityAtlantaUSA
  3. 3.Departments of Pediatrics and Human Genetics Howard Hughes Medical InstituteUniversity of Michigan Medical CenterAnn ArborUSA

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