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Sindrome di Werdnig-Hoffmann familiare che include una coppia di gemelli MZ concordanti (un caso di Consulenza Eugenica)

Published online by Cambridge University Press:  01 August 2014

L. Gedda ,
G. Del Porto  and
A. Del Porto-Mercuri
L. Gedda
Affiliation:
Istituto di Genetica Medica e di Gemellologia «Gregorio Mendel»- Roma
G. Del Porto
Affiliation:
Istituto di Genetica Medica e di Gemellologia «Gregorio Mendel»- Roma
A. Del Porto-Mercuri
Affiliation:
Istituto di Genetica Medica e di Gemellologia «Gregorio Mendel»- Roma

Summary

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The Authors report the eugenic prediction formulated for a couple whose three babies (two of whom were monozygotic twins) had died as a consequence of the syndrome of Werdnig-Hoffmann. Since the two cases of the MZ twin pair represent a single chance combination at conception, and since the indications from the literature and from the family tree in this case indicate a monomeric genotype of a recessive type, the morbid risk for a fourth affected child has been estimated at 25%.

The occurrence of concordant W. H. syndrome in MZ cotwins is stressed.

No chromosome abnormalities have been revealed by karyotype examination of the parents.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 11 , Issue 2 , April 1962 , pp. 113 - 123
Copyright
Copyright © The International Society for Twin Studies 1962

References

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