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VIII.37 - Down Syndrome

from Part VIII - Major Human Diseases Past and Present

Published online by Cambridge University Press:  28 March 2008

Kenneth F. Kiple
Affiliation:
Bowling Green State University, Ohio
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Summary

Down syndrome, previously called “mongolism,” is a relatively common condition resulting from the presence of an extra chromosome, number 21, in all the cells of the body. In each human cell, there are 23 chromosome pairs containing basic genetic material that organizes the body’s development and physiological functioning. Each pair has a distinctive size and conformation and can be readily identified on microscopic examination. Chromosome pair number 21 is one of the smaller chromosomes. In Down syndrome there are usually three (trisomy) rather than two number 21 chromosomes (trisomy 21: found in 95 to 98 percent of all cases). In a small number of children with Down syndrome, the extra number 21 chromosome is attached to a chromosome of a larger pair (numbers 13 to 15; translocation Down syndrome–about 2 percent of all cases). In some children with the features of Down syndrome, the extra chromosome is present in less than 90 percent of the cells (mosaic Down syndrome–about 2 to 4 percent of all cases). Down syndrome is the most frequently occurring chromosome abnormality in live-born humans, and is also among the most frequently identified chromosomal abnormalities, representing about 4 percent of all aborted fetuses (Lilienfeld 1969). Down syndrome is usually recognizable at birth as a cluster of physical and neurological abnormalities (see Clinical Manifestations), which develop in a characteristic fashion during the life cycle.

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Publisher: Cambridge University Press
Print publication year: 1993

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References

Baird, P. A., and Sadovnick, A. D.. 1987. Life expectancy in Down syndrome. Journal of Pediatrics 110.CrossRefGoogle ScholarPubMed
Bleyer, A. 1934. Indications that mongoloid imbecility is a gametic mutation of degressive type. American Journal of Diseases of Children 17.Google Scholar
Book, M. A., Fraccaro, M., and Lindsten, J.. 1959. Cytogenetical observations in mongolism. Acta Paediatrica 48.Google ScholarPubMed
Brain, L. 1967. Historical introduction. In Mongolism, CIBA Foundation Study Group No. 25. London.Google Scholar
Brousseau, K., and Brainerd, H. G.. 1928. Mongolism: A study of the physical and mental characteristics of mongolian imbeciles. Baltimore.Google Scholar
Collman, R. D., and Stoller, A.. 1962. Epidemiology of congenital anomalies of the central nervous system with special reference to patterns in the State of Victoria, Australia. Journal of Mental Deficiency Research 7.Google Scholar
Cronk, C. E., et al. 1988. Growth charts for children with Down syndrome, one month to 18 years. Pediatrics 81.Google Scholar
Down, J. Langdon. 1867. Observations on ethnic classification of idiots. Journal of Mental Science 13.CrossRefGoogle Scholar
Janerich, D. T., and Bracken, M. B.. 1986. Epidemiology of trisomy 21: A review and theoretical analysis. Journal of Chronic Disease 39.CrossRefGoogle ScholarPubMed
Lilienfeld, A. M. 1969. Epidemiology of mongolism. Baltimore.Google Scholar
Penrose, L. S. 1954. Observations on the aetiology of mongolism. Lancet 2.Google Scholar
Polani, P. E., et al. 1960. A mongol girl with 46 chromosomes. Lancet 1.Google ScholarPubMed
Pueschel, S. M. 1984. The young child with Down syndrome. New York.Google Scholar
Pueschel, S. M., and Steinberg, L. S.. 1980. Down syndrome: A comprehensive bibliography. New York.Google Scholar
Sheehan, P. M., and Hillary, I. B.. 1983. An unusual cluster of babies with Down’s syndrome born to former pupils of an Irish boarding school. British Journal of Medicine (Clinical Research) 287.CrossRefGoogle ScholarPubMed

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  • Down Syndrome
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.099
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  • Down Syndrome
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.099
Available formats
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Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

  • Down Syndrome
  • Edited by Kenneth F. Kiple, Bowling Green State University, Ohio
  • Book: The Cambridge World History of Human Disease
  • Online publication: 28 March 2008
  • Chapter DOI: https://doi.org/10.1017/CHOL9780521332866.099
Available formats
×