Summary
Pedigrees of all known cases, on Shetland, of Down's syndrome, cytogenetically confirmed as trisomy 21, and of a control for each patient matched by birth date, sex and birth place, were traced over a minimum of eight generations. Mean kinship coefficients in all pairs of Down's syndrome patients and in all pairs of controls were similar. The kinship between the father and mother of each case shows that the parents are more closely related than the general level of relationship in the population, suggesting some recessive element in the etiology. It is argued that the effect of the resulting increased homozygosity would be to prevent the loss of the conceptus that occurs in the majority of trisomy 21 conceptions.
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References
Abbo G, Zellweger H, Cuany R (1966) Satellite association in familial mosaicism. Helv Paediatr Acta 21:293–299
Alfi OS, Chang R, Azen SP (1980) Evidence for genetic control of nondisjunction in man. Am J Hum Genet 32:477–483
Bear JC, Richler A (1981) Ocular refraction and inbreeding. J Biosoc Sci 13:391–399
Berg JM (1967) Discussion. In: Wolstenholm GEW, Porter R (eds) Mongolism. Churchill, London, p 29
Devoto M, Prosperi L, Bricarelli FD, Coviello DA, Croci D, Zelante L, Ferranti G, Tenconi R, Stomeo C, Romeo G (1985) Frequency of consanguineous marriages among parents and grandparents of Down patients. Hum Genet 70:256–258
Farag TI, Teebi AS (1988) Possible evidence for genetic predisposition to nondisjunction in man. J Med Genet 25:136–137
Ferguson Smith MA, Yates JRW (1984) Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52965 amniocenteses. Prenat Diagn 4 [Suppl]:5–44
Forssman H, Akesson HO (1967) Consanguineous marriages and mongolism. In: Wolstenholm GEW, Porter R (eds) Mongolism. Churchill, London, p 23
Gowen JW (1933) Meiosis as a genetic character inDrosophila melanogaster. J Exp Zool 65:83–106
Hsu LYF, Hirschhorn K, Goldstein A, Bareinski MA (1970) Familial chromosomal mosaicism. Ann Hum Genet 33:343–349
Innes G, Johnston AW, Millar WM (1978) Mental subnormality in North-East Scotland: a multi-disciplinary study of a total population. Scottish Home and Health Department, no 38
Johnston AW, Petrakis JK (1963) Mongolism and Turner's syndrome in the same sipship. Ann Hum Genet 26:407–409
Jorde LB, Fineman RM, Martin RA (1983) Epidemiology and genetics of neural tube defects. Am J Phys Anthropol 62:23–31
Juberg RC, Davis LM (1970) Etiology of nondisjunction. Lack of evidence for genetic control. Cytogenetics 9:284–293
Lister TJ, Frota-Pessoa O (1980) Recurrence risks for Down syndrome. Hum Genet 55:203–208
Matsunaga E (1967) Discussion. In: Wolstenholm GEW, Porter R (eds) Mongolism. Churchill, London, p 29
Mikkelsen M, Poulsen H, Grinsted J, Lange A (1980) Nondisjunction in trisomy 21. Ann Hum Genet 44:17–28
Mottironi VD, Hook EB, Wilky AM, Porter IH, Swift RV, Hatcher NH (1983) Decreased HLA heterogeneity in parents of children with Down syndrome. Am J Hum Genet 35:1289–1296
Owens JR, Harris F, Walker S, McAllister E, West L (1983) The incidence of Down's syndrome over a 19-year period. J Med Genet 20:90–93
Penrose LS (1961) Mongolism. Br Med Bull 17:184
Polani PE (1967) Occurrence and effect of human chromosome abnormalities. In: Platt R, Parkes AS (eds) Social and genetic influences on life and death. Oliver & Boyd, Edinburgh, pp 3–19
Roberts DF (1969) Consanguineous marriages and calculation of the genetic load. Ann Hum Genet 32:407–410
Roberts DF, Roberts MJ, Poskanzer DC (1979) Genetic analysis of multiple sclerosis in Orkney. J Epidemiol Community Health 33:229–235
Roberts DF (1983) Genetic epidemiology. Am J Phys Anthropol 62:67–70
Roberts DF, Roberts MJ, Poskanzer DC (1983) Genetic analysis of multiple sclerosis in Shetland. J Epidemiol Community Health 37:281–285
Smith GF, Berg JM (1976) Down's anomaly, 2nd edn. Churchill Livingstone, Edinburgh
Spuhler JW, Kluckhohn C (1953) Inbreeding coefficients of the Ramah Navaho population. Hum Biol 25:295
Yokoyama S, Reich T, Morgan K (1981) Inbreeding and the genetic control of nondisjunction. Hum Genet 59:125–128
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Roberts, D.F., Roberts, M.J. & Johnston, A.W. Genetic epidemiology of Down's syndrome in Shetland. Hum Genet 87, 57–60 (1991). https://doi.org/10.1007/BF01213093
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DOI: https://doi.org/10.1007/BF01213093