Hostname: page-component-cd9895bd7-p9bg8 Total loading time: 0 Render date: 2024-12-25T01:29:45.481Z Has data issue: false hasContentIssue false

Familial 21/22 Translocation

Published online by Cambridge University Press:  01 August 2014

Z. Papp*
Affiliation:
Human Genetics Laboratory, Department of Obstetrics and Gynecology, University Medical School, Debrecen, Hungary
B. Dolhay
Affiliation:
Human Genetics Laboratory, Department of Obstetrics and Gynecology, University Medical School, Debrecen, Hungary
S. Gardo
Affiliation:
Human Genetics Laboratory, Department of Obstetrics and Gynecology, University Medical School, Debrecen, Hungary
*
Human Genetics Laboratory, Department of Obstetrics and Gynecology, University Medical School, H-4012 Debrecen, Hungary

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A family is described with 21/22 translocation, where chromosome segregation appeared to follow theoretical expectations, rather than empirical risk figures, in male and female carriers alike.

The usefulness of prenatal genetic studies in genetic counseling is also demonstrated.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1975

References

REFERENCES

Hamerton, J.L. 1968. Robertsonian translocations in man: evidence for prezygotic selection. Cytogenetics, 7: 260276.CrossRefGoogle ScholarPubMed
Hamerton, J.L. 1971. Human Cytogenetics (Vol. I-II). New York and London: Academic Press.Google Scholar
Hongell, K., Gripenberg, U., Iivanainen, U. 1972. Down's syndrome incidence of translocations in Finland. Hum. Hered., 22: 714.CrossRefGoogle ScholarPubMed
Jackson, J.F., Ashford, W.P. 1967. Familial mongolism due to 21/22 chromosome translocation. JAMA, 200: 722724.CrossRefGoogle ScholarPubMed
Méhes, K. 1969. Down's syndrome with familial G/G translocation. Acta Genet. Med. Gemellol. (Roma), 18:8691.CrossRefGoogle ScholarPubMed
Mikkelsen, M. 1967. Down's syndrome at young maternal age: cytogenetical and genealogical study of eighty-one families. Ann. Hum. Genet., 31: 5157.CrossRefGoogle Scholar
Mikkelsen, M., Stene, J. 1970. Genetic counselling in Down's syndrome. Hum. Hered., 20: 457464.CrossRefGoogle ScholarPubMed
Papp, Z., Gardó, S., Herpay, G., Méhes, K., Arvay, A. 1971. Intrauterine diagnosis of G/G translocation by amniocentesis. 4th Int. Congr. Hum. Genet., Paris. In: Excerpta Medica, Int. Congr. Ser. No. 233; p. 137.Google Scholar
Papp, Z., Gardó, S., Méhes, K. 1972. Intrauterine Diagnose von G/G Translokation. Z. Geburtshilfe Perinatol., 176: 409412.Google Scholar
Pfeiffer, R.A. 1963. The transmission of G/G translocation. Lancet, 1: 1163.CrossRefGoogle ScholarPubMed
Scheibenreiter, S., Stur, O., Thalhammer, O. 1968. Chromosomenuntersuchungen an einer Familie mit drei mongoloiden und zweigesunden Kindern. Monatschr. Kinderheilk., 116: 183188.Google Scholar
Shaw, M.W. 1962. Familial mongolism. Cytogenetics, 1: 141179.CrossRefGoogle ScholarPubMed
Soudek, D., Laxová, R., Adàmek, R. 1966. Development of translocation 21/22. Lancet, 2: 336337.CrossRefGoogle Scholar
Soudek, D., Laxová, R., Adàmek, R. 1968. Pericentric inversion in a family with a 21/22 translocation. Cytogenetics, 7: 108117.CrossRefGoogle Scholar
Stene, J. 1970. A statistical segregation analysis of (21q22q)-translocations. Hum. Hered., 20: 465472.CrossRefGoogle ScholarPubMed
Waxman, S.H., Arakaki, D.T. 1966. Familial mongolism by a G/G mosaic carrier. J. Pediatr., 69: 274278.CrossRefGoogle Scholar
Yang, S.J., Rosenberg, H.S. 1969. 21/22 translocation Down's syndrome: a family with unusual segregating patterns. Am. J. Hum. Genet., 21: 248251.Google ScholarPubMed
Yunis, J.J., Hook, E.B., Mayer, M. 1965. Identification of the mongolism chromosome by DNA replication analysis. Am. J. Hum. Genet., 17: 191201.Google ScholarPubMed