Summary
The authors investigated the age of the parents and grandmothers of 262 children with simple trisomy 21. In cases in which the mother was under 30, the mean grandmaternal age was higher than that of the controls. This might mean that some of these cases, being the children of old mothers, began their lives as trisomic zygotes.
The authors assume that not only maternal but also paternal mosaicism might be significant. They evaluate their results in light of genetic counseling and in consideration of practical conclusions that can be used in prenatal genetic diagnosis.
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References
Ferrier, S.: Enfant mongolien-parent mosaique. Étude de deux familles. J. Genet. Hum. 13, 315–336 (1964)
Forssman, H., Akesson, H. O.: Consanguineous marriages and mongolism. CIBA Foundation Study Group, No. 25. London: Churchill 1967
Greenberg, R. C.: Two factors influencing the births of mongols to younger mothers. Med. Offr. 109, 62–64 (1963)
Hara, Y., Sasaki, M.: A note on the origin of the extra chromosomes in trisomies 13 and 21. Proc. Japan Acad. 51, 295–299 (1975)
Hsu, L. Y. F., Gertner, M., Leitner, E., Hirschhorn, K.: Paternal trisomy 21 mosaicism and Down's syndrome. Am. J. Hum. Genet. 23, 592–601 (1971)
Langenbeck, U., Hansmann, I., Hinney, B., Hönig, V.: On the origin of the supernumerary chromosome in autosomal trisomies—with special reference to Down's syndrome. Hum. Genet. 33, 89–102 (1976)
Méhes, K.: Paternal trisomy 21 mosaicism and Down's anomaly. Humangenetik 17, 297–300 (1973)
Mikkelsen, M., Hallberg, A., Poulsen, H.: Maternal and paternal origin of extra chromosome in trisomy 21. Hum. Genet. 32, 17–21 (1976)
Papp, Z., Csécsei, K., Skapinyecz, J., Dolhay, B.: Paternal normal/trisomy 21 mosaicism as an indication for amniocentesis. Clin. Genet. 6, 192–194 (1974)
Papp, Z., Osztovics, M., Méhes, K., Schuler, D., Horváth, L., Szemere, Gy., László, J.: Down's syndrome: Chromosome analysis in 362 cases. Hum. Hered. 27, 305–309 (1977)
Penrose, L. S.: Studies on mosaicism in Down's anomaly. In: Mental retardation (G. A. Jervis, ed.). Springfield (Ill.): Thomas 1967
Richards, B. W.: Observations on mosaic parents of mongol propositi. J. Ment. Defic. Res. 14, 342–346 (1970)
Robinson, J. A.: Origin of extra chromosome in trisomy 21. Lancet 1973 I, 131–133
Sasaki, M., Hara, Y.: Paternal origin of the extra chromosome in Down's syndrome. Lancet 1973 II, 1257–1258
Stoller, A., Collmann, R. D.: Grandmaternal age at birth of mothers of children with Down's syndrome (Mongolism). J. Ment. Defic. Res. 13, 201–205 (1969)
Timson, J., Harris, R., Gadd, R. L., Ferguson-Smith, M. E. Ferguson-Smith, M. A.: Down's syndrome due to maternal mosaicism, and the value of antenatal diagnosis. Lancet 1971 I, 549–550
Wagenbichler, P., Killian, W., Rett, A., Schnedl, W.: Origin of the extra chromosome No. 21 in Down's syndrome. Hum. Genet. 32, 13–16 (1976)
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Papp, Z., Váradi, É. & Szabó, Z. Grandmaternal age at birth of parents of children with trisomy 21. Hum Genet 39, 221–224 (1977). https://doi.org/10.1007/BF00287015
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DOI: https://doi.org/10.1007/BF00287015