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Trisomy 21

Molecular and Cytogenetic Studies of Nondisjunction

  • Chapter
Advances in Human Genetics 1

Part of the book series: Advances in Human Genetics ((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.

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Author information

Authors and Affiliations

  1. Department of Pediatrics Howard Hughes Medical Institute, University of Michigan Medical Center, 48109, Ann Arbor, Michigan, USA

    Gordon D. Stewart

  2. Division of Medical Genetics, Emory University, 30322, Atlanta, Georgia, USA

    Terry J. Hassold

  3. Departments of Pediatrics and Human Genetics Howard Hughes Medical Institute, University of Michigan Medical Center, 48109, Ann Arbor, Michigan, USA

    David M. Kurnit

Authors
  1. Gordon D. Stewart
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  2. Terry J. Hassold
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  3. David M. Kurnit
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Editor information

Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, USA

    Harry Harris (Harnwell Professor of Human Genetics) (Harnwell Professor of Human Genetics)

  2. Mount Sinai School of Medicine of The City University of New York, USA

    Kurt Hirschhorn (Herbert H. Lehman Professor and Chairman of Pediatrics) (Herbert H. Lehman Professor and Chairman of Pediatrics)

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© 1988 Plenum Press, New York

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Stewart, G.D., Hassold, T.J., Kurnit, D.M. (1988). Trisomy 21. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 1. Advances in Human Genetics, vol 17. Springer, Boston, MA. https://doi.org/10.1007/978-1-4613-0987-1_4

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  • DOI: https://doi.org/10.1007/978-1-4613-0987-1_4

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4612-8279-2

  • Online ISBN: 978-1-4613-0987-1

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