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Retinoblastoma in two single-born sisters and two MZ female twins in the same sibship

Published online by Cambridge University Press:  02 February 2016

L. Gedda
Affiliation:
Cattedra di Genetica Medica dell'Università di Roma, presso l'lstituto di Genetica Medica e Gemellologia « G. Mendel »
A. Alfieri
Affiliation:
Cattedra di Genetica Medica dell'Università di Roma, presso l'lstituto di Genetica Medica e Gemellologia « G. Mendel »

Summary

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A sibship is reported, including four female children, two of which MZ twins, all affected by retinoblastoma (the lesion being bilateral in three of them, and unilateral in a fourth one). The literature on the heredity of the condition is considered; the latter does not appear to be inherited as a regular dominant. Finally its genetic interpretation in the observed sibship is considered.

Riassunto

Riassunto

Gli AA. riportano il caso di una fratria comprendente 4 bambine, delle quali due gemelle MZ, tutte affette da retinoblastoma (tre con lesione bilaterale e una con lesione monolaterale).

Vengono considerati i dati riportati nella letteratura sulla ereditarietà della malattia, che non si manifesta secondo gli schemi di una dominanza regolare, e viene discussa l'interpretazione genetica nella fratria osservata.

Résumé

RÉSUMÉ

Les AA. rapportent le cas d'une fratrie comprenant quatre filles, dont deux jumelles MZ, toutes atteintes de rétinoblastome (la lésion étant bilatérale en trois cas, et monolatérale dans un quatrième). Les AA. considèrent la bibliographie sur l'hérédité de la maladie, qui ne paraît pas se transmettre suivant une dominance regulière, et en discutent l'interprétation génétique dans la fratrie observée.

Zusammenfassung

ZUSAMMENFASSUNG

Verf. bringen den Fall einer Sippe, in der 4 Mädchen, darunter ein EZ-Paar, an einem Retinoblastom leiden (die Läsion war in drei Fällen bilateral, in einem Falle monolateral). Es folgt eine Betrachtung der in der Literatur angeführten Daten über die Vererbung der Krankheit, die nicht den Schemen der regelmässigen Dominanz folgend auftritt, weshalb die genetische Ausdeutung der Sippenbeobachtung zu erörtern bleibt.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1966

References

Bibliografia

Bassow, L. (1934). Contribution à l'étude de l'histogenèse des tumeurs rétiniennes. Thèse, Strasbourg.Google Scholar
Bosch, (1958). cit. François 1962.Google Scholar
Brindley, B. I., Collins, J. D. (1962). Bilateral retinoblastoma in identical twins. Arch. Ophthal., 65: 37.Google Scholar
Coggi, U. (1947). Arch. Klaus. Stift. Vererbungsforsch., 22: 123. cit. François 1962.Google Scholar
Day, R. W. et al. (1964). XXX, 21 trisomy and retinoblastoma. Lancet, 2: 154.Google Scholar
Dollfus, M. A., Auvert, B. (1953). Le Gliome de la Rétine et les Pseudogliomes. Masson Ed., Paris.Google Scholar
Drews, R. C. (1962). Transmission of retinoblastoma by non affected members of a family. Arch Ophthal., 68: 329.CrossRefGoogle Scholar
Falls, H. S., Neel, J. V. (1951). Genetics of retinoblastoma. Arch. Ophthal., 46: 367.CrossRefGoogle ScholarPubMed
François, J. (1958). L'Hérédité en Ophtalmologie. Masson Ed., Paris.Google Scholar
François, J. (1962). Tumori Oculari Maligni. In Gedda, L.: De Genetica Medica, VI, 224, Ed. Ist. Mendel, Roma.Google Scholar
Griffith, A. H., Sorsby, A. (1944). The genetics of retinoblastoma. Brit. J. Ophthal., 28: 279.CrossRefGoogle ScholarPubMed
Hemmes, G. D. (1931). Klin. Mbl. Augenheilk., 86: 331. cit. François 1962.Google Scholar
Hemmes, G. D. et al. (1964). The possibility of development of retinoblastoma in children from families in which this disease has occurred. Nederl. T. Geneesk., 108: 1906.Google ScholarPubMed
Kaelin, A. (1955). Arch. Klaus. Stift. Vererbungsforsch., 30: 263.Google Scholar
Kanter, Y. C. (1964). Retinoblastoma occurring in one pair of identical twins. Arch. Ophthal., 72: 783.CrossRefGoogle ScholarPubMed
Klein, D. (1958). The genetic questionnaire. J. Genet. Hum., 6: 245.Google Scholar
Klein, D. (1962) J. Genet. Hum., 11: 72.Google Scholar
Laurent, C. (1960). Genetics of retinoblastoma. Bull. Soc. Ophtal. Franc., 2: 82.Google ScholarPubMed
Lele, K. P. et al. (1963). Chromosome deletion in a case of retinoblastoma. Ann. Hum. Genet., 27: 171.CrossRefGoogle Scholar
Lukens, C. (1908). J. Ophtal. Otolaryng., 3: 1.Google Scholar
Macklin, M. T. (1959). Inheritance of retinoblastoma. Arch. Ophthal., 62: 842.CrossRefGoogle ScholarPubMed
Macklin, M. T. (1960). Amer. J. Hum. Genet., 12: 1.Google Scholar
Manchester, P. T. (1961). Retinoblastoma among offspring of adult survivors. Arch. Ophthal., 65: 546.CrossRefGoogle ScholarPubMed
Nirankari, M. S. et al. (1962). Retinoblastoma. Genetics and report of a family. Amer. J. Ophthal., 53: 523.CrossRefGoogle ScholarPubMed
Neel, J. V., Falls, H. F. (1951). Science, 114: 419.CrossRefGoogle Scholar
Ogyu, H. (1959). Acta Soc. Ophthal. Jap., 63: 2702. cit. François 1962.Google Scholar
Reese, A. B. (1954). Frequency of retinoblastoma in progeny of parents who have survived the disease. Arch. Ophthal., 52: 815.CrossRefGoogle ScholarPubMed
Smith, S. M., Sorsby, A. (1958). Retinoblastoma: some genetic aspects. Ann. Hum. Genet., 23: 50.CrossRefGoogle ScholarPubMed
Sorsby, A. (1964). Hereditary affections of the retina and choroid. A. Ge. Me. Ge., XIII: 20.Google Scholar
Stallard, H. B. (1936). Brit. Med. J., 2: 962.CrossRefGoogle Scholar
Totsuka, K. et al. (1964). Occurrence of bilateral retinoblastoma in 3 siblings. J. Clin. Ophthal., 18: 134.Google ScholarPubMed
Towsend, J. F. (1939). Scot. Med. J., 32: 75.Google Scholar
Tucker, D. P. et al. (1957). Arch. Ophthal, 57: 532.CrossRefGoogle Scholar
Vogel, F. (1954). Uber Genetik und mutations-rate des Retinoblastoms. Z Menschl. Vererb. Konstitutionsl., 32: 308.Google Scholar
Vogel, F. (1957). Neue untersuchungen zur Genetik des Retinoblastoms. Z. Mensch. Vererb. Konstitutionsl., 34: 205.Google Scholar
Wiener, S. et al. (1963). Chromosome studies in retinoblastoma. Arch. Ophthal., 69: 311.CrossRefGoogle ScholarPubMed
Weller, C. V. (1941). Cancer Res., 1: 517. cit. François 1962.Google Scholar