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Sindrome OFD in un Maschio Rilievi sulla Genetica della Sindrome OFD dall'Analisi di 33 Famiglie

Published online by Cambridge University Press:  01 August 2014

G. Segni ,
A. Serra ,
R. Mastrangelo ,
G. Polidori  and
J. Massasso
G. Segni
Affiliation:
Università Cattolica, Facoltà di Medicina e Chirurgia, Roma Istituto di Clinica Pediatrica Istituto di Genetica Umana
A. Serra*
Affiliation:
Università Cattolica, Facoltà di Medicina e Chirurgia, Roma Istituto di Clinica Pediatrica Istituto di Genetica Umana
R. Mastrangelo
Affiliation:
Università Cattolica, Facoltà di Medicina e Chirurgia, Roma Istituto di Clinica Pediatrica Istituto di Genetica Umana
G. Polidori
Affiliation:
Università Cattolica, Facoltà di Medicina e Chirurgia, Roma Istituto di Clinica Pediatrica Istituto di Genetica Umana
J. Massasso
Affiliation:
Università Cattolica, Facoltà di Medicina e Chirurgia, Roma Istituto di Clinica Pediatrica Istituto di Genetica Umana
*
Istituto di Genetica Umana, Università Cattolica, Roma, Italy

Summary

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A case of OFD syndrome in a male is reported. The clinical features are described in detail. The genetical aspects of the syndrome are discussed on the basis of the analysis of 33 families from the recent literature. It appears that in the great majority of the cases so far known, the syndrome is due to a dominant probably X-linked gene, lethal in males and with complete penetrance in females. Of all cases 24% are sporadic. It seems likely that a few cases are due to a recessive autosomal gene. It is concluded that the reported patient is, with high probability, either a mutant or a case with hereditary recessive pattern.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 19 , Issue 4 , October 1970 , pp. 546 - 566
Copyright
Copyright © The International Society for Twin Studies 1970

References

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