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Research in the Etiology of Down's Syndrome1 Intricacies and Pitfalls

Published online by Cambridge University Press:  01 August 2014

Arnold R. Kaplan ,
Roland Fischer ,
Steven Zsako ,
Frances Griffin  and
Edward V. Glanville
Arnold R. Kaplan
Affiliation:
Dept. of Medical Genetics, Cleveland Psychiatric Institute, Cleveland, Ohio (U.S.A.) Depts. of Psychiatry and Physiological Chemistry, Ohio State University School of Medicine, Columbus, Ohio (U.S.A.) Dept. of Medicine, Euclid Clinic Foundation, Euclid, Ohio (U.S.A.)
Roland Fischer
Affiliation:
Dept. of Medical Genetics, Cleveland Psychiatric Institute, Cleveland, Ohio (U.S.A.) Depts. of Psychiatry and Physiological Chemistry, Ohio State University School of Medicine, Columbus, Ohio (U.S.A.) Dept. of Medicine, Euclid Clinic Foundation, Euclid, Ohio (U.S.A.)
Steven Zsako
Affiliation:
Dept. of Medical Genetics, Cleveland Psychiatric Institute, Cleveland, Ohio (U.S.A.) Depts. of Psychiatry and Physiological Chemistry, Ohio State University School of Medicine, Columbus, Ohio (U.S.A.) Dept. of Medicine, Euclid Clinic Foundation, Euclid, Ohio (U.S.A.)
Frances Griffin
Affiliation:
Dept. of Medical Genetics, Cleveland Psychiatric Institute, Cleveland, Ohio (U.S.A.) Depts. of Psychiatry and Physiological Chemistry, Ohio State University School of Medicine, Columbus, Ohio (U.S.A.) Dept. of Medicine, Euclid Clinic Foundation, Euclid, Ohio (U.S.A.)
Edward V. Glanville
Affiliation:
Dept. of Medical Genetics, Cleveland Psychiatric Institute, Cleveland, Ohio (U.S.A.) Depts. of Psychiatry and Physiological Chemistry, Ohio State University School of Medicine, Columbus, Ohio (U.S.A.) Dept. of Medicine, Euclid Clinic Foundation, Euclid, Ohio (U.S.A.)

Extract

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Cytological studies have shown that Down's syndrome (“ mongolism ”) is the result of a chromosomal anomaly which occurs either in one of the parent's germ cells or at a very early stage in (embryonic) development of the affected individual. The chromosomal anomaly involves the occurrence of a third number 21 chromosome, in addition to the normal complement of two, either separately (i. e., trisomy-21) or attached to one of the other acrocentric chromosomes (i. e., translocation to one of the chromosomes numbered 13-15 or 22 — Denver Report, 1960). Epidemiological studies have indicated that numerous factors are related to, and may affect, incidence of the chromosomal anomalies resulting in Down's syndrome. Studies by Collmann and Stoller (1962a, b) imply fluctuations of annual incidence with a 5-6 year periodicity, a higher incidence in urban compared to rural areas and a clusteting of affected births in certain geographic regions. Collmann and Stoller postulated an “ infectious agent, probably a virus ”, to account for their data. No connection, however, can yet be drawn between such a hypothesis and the established cytogenetic anomaly. Periodic fluctuations in incidence, which are characteristic of recurrent epidemics (Gordon, 1962), have also been reported for congenital anomalies other than Down's syndrome, such as anencephaly, spina bifida, and hydrocephaly (Collmann and Stoller, 1962b; Guthkelch, 1962; Alter, 1962; Slater, Watson and McDonald, 1964).

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 14 , Issue 1 , January 1965 , pp. 93 - 96
Copyright
Copyright © The International Society for Twin Studies 1965

Footnotes

1

Supported by the State of Ohio, Dept. of Mental Hygiene and Correction, Div. of Mental Hygiene; by research grants from the National Institutes of Health, no. MH-07820-01 (Arnold R. Kaplan and Roland Fischer, principal investigators) and no. GRS-05563 (Cleveland Psychiatric Institute); and by a research grant from the Euclid Clinic Foundation (Steven Zsako, principal investigator).

References

Alter, M.: Anencephalus, hydrocephalus, and spina bifida epidemiology, with special reference to a survey in Charleston, S. C. Arch. Neurol., 7: 411–422, 1962.CrossRefGoogle ScholarPubMed
Benda, G. E.: Die mongoloide Wachstumsstörung (Kongenitale Akromikrie). Medizinische, 2: 1083–1088, 1953.Google Scholar
Collmann, R. D. & Stoller, A.: A survey of mongoloid births in Victoria, Australia, 1942-1957. Am J. Pub. Health, 52: 813–829, 1962a.Google Scholar
Collmann, R. D. A survey of mongolism and congenital anomalies of the central nervous system in Victoria. New Zealand Med. J., 61: 24–32, 1962b.Google Scholar
Goppen, A. & Cowie, V.: Maternal health and mongolism. Brit. Med. J., 1: 1843–1847, 1960.Google Scholar
Davis, J. C., Wade, A. P., Wilkinson, G. S., Smithells, R. W., Carter, C. O., Clarke, C. A. & Sheppard, P. M.: Steroid excretion of dehydroepiandrosterone in young mothers of mongols. Lancet, 1: 782–785, 1964.Google Scholar
Dekaban, A. S.: Anencephaly in early embryos. J. Neuropath, and Exp. Neurol., 22: 533–548, 1963.CrossRefGoogle Scholar
Denver Report: A proposed standard system of nomenclature of human mitotic chromosomes. Am. J. Hum. Genet., 12: 384–388, 1960.Google Scholar
Dutton, G.: The androgyny of mongols. J. Ment. Sci., 108: 432–437, 1962.Google Scholar
Ek, J. I. & Jensen, C. C.: Steroid studies on urine from mothers of mongoloid infants. Acta Endrocinol., 31: 523–528, 1959.Google Scholar
Fischer, R., Griffin, F., England, S. & Pasamanick, B.: Biochemicalgenetic factors of taste polymorphism and their relation to salivary thyroid metabolism in health and mental retardation. Med. Exp. 4: 356–366, 1961.Google Scholar
Fischer, R., Griffin, F., Kaplan, A. R.: Taste thresholds in mothers of children with Down's syndrome. Lancet, 2, 992, 1962.Google Scholar
Fischer, R., Griffin, F., Kaplan, A. R.: Taste thresholds in mothers of children with Down's syndrome. Lancet, 2: 393–394, 1963a.Google Scholar
Fischer, R., Griffin, F., Kaplan, A. R.: Taste thresholds, cigarette smoking, and food dislikes. Med. Exp. 9: 151–167, 1963b.Google Scholar
Fischer, R., Griffin, F., Mead, E. C.: Two characteristic ranges of taste sensitivity. Med. Exp., 6: 177–182, 1962.Google Scholar
Fischer, R., Kaplan, A. R., Griffin, F. & Sting, D. G.: Abnormal congregation of insensitive (“non-”) tasters among parents of children with Down's syndrome. A. J. Ment. Def., 67: 849–855, 1936.Google Scholar
Glanville, E. V., Kaplan, A. R. & Fischer, R.: Age, sex, and taste sensitivity. J. Gerontol., 19: 474–478, 1964.Google Scholar
Gordon, J. E.: Chickenpox: an epidemiological review. Am. J. Med. Sci., 244: 362–389, 1962.Google Scholar
Guthelch, A. N.: Studies in spina bifida cystica. III. Seasonal variations in the frequency of spina bifida births. Brit. J. Prevent. & Soc. Med., 16: 159–162, 1962.Google Scholar
Hamwi, G. J., von Fossen, A. W., Whitestone, R. E. & Williams, I.: Endemic goiter in Ohio school children. Am. J. Pub. Health, 45: 1344–1348, 1955.Google Scholar
Kaplan, A. R.: Phenylketonuria. Eug. Quart., 9: 151–160, 1962.Google Scholar
Kaplan, A. R., Glanville, E. V. & Fischer, R.: Taste thresholds for bitterness and cigarette smoking. Nature, 202: 1366, 1964.Google Scholar
Parson, P. A.: Maternal age and development variability. J. Exp. Biol., 39: 251–260, 1962.Google Scholar
Penrose, L. S.: The distal triradius t on the hands of parents and sibs of mongol imbeciles. Ann. Hum. Genet., 19, 10–38, 1954.Google Scholar
Penrose, L. S.: Mongolism. Brit. Med. Bull., 77: 184–189, 1961.Google Scholar
Rundle, A., Coppen, A. & Cowie, V.: Steroid excretion in mothers of mongols. Lancet, 2: 846–848, 1961.Google Scholar
Slater, B. C. S., Watson, G. I. & McDonald, J. C.: Seasonal variation in congenital abnormalities. Brit. J. Prevent. & Soc. Med., 18: 1–7, 1964.Google Scholar
Tanner, J. M.: Current advances in the study of physique. Photogrammetric anthropometry and an androgyny scale. Lancet, 1: 574–579, 1951.Google Scholar
Turpin, R. & Caratzali, A.: Conclusions d'une étude génétique de la langue plicaturée. C. R. Acad. Sci. (Paris) 196: 2040–2045, 1933.Google Scholar