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Osservazione sulla trasmissione ereditaria della sindrome di Ellis-Van Creveld

Published online by Cambridge University Press:  01 August 2014

Carlo Zunin
Carlo Zunin*
Affiliation:
Caltedra di Genetica Medica dell'Università di Genova (Italia) Divisione Pediatrica, Ospedale Civile di Santa Croce, Cuneo (Italia)

Summary

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Two personal observations are presented, the former including a pedigree showing both on the maternal and paternal side isolated symptoms of the Ellis-van Creveld syndrome, and the latter consisting in an affected child ensued from a consanguineous marriage, his parents being first cousins. The cases of the literature in which the hereditary component is evident (28 in 49) are also examined. The most significant data from a genetic standpoint are discussed, i. e. the presence of isolated symptoms in the families of the patients, the consanguinity in the parents, the presence of the syndrome in different members of the same sibship. As a conclusion the recessive inheritance, through an autosomal polyphenic gene, is confirmed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 12 , Issue 3 , July 1963 , pp. 269 - 275
Copyright
Copyright © The International Society for Twin Studies 1963

References

Bibliografia

Per una completa bibliografia si rinvia ai seguenti lavori:

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