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Analysis of Microsymptomatology in CNS Malformations

Published online by Cambridge University Press:  01 August 2014

G. Del Porto ,
G. Brenci  and
M. L. Tombolini
G. Del Porto*
Affiliation:
Cattedra di Genetica Medica, Istituto Universitario di Medicina e Chirurgia, L'Aquila Istituto di Genetica Medica e Gemellologia Gregorio Mendel, Roma
G. Brenci
Affiliation:
Cattedra di Genetica Medica, Istituto Universitario di Medicina e Chirurgia, L'Aquila Istituto di Genetica Medica e Gemellologia Gregorio Mendel, Roma
M. L. Tombolini
Affiliation:
Cattedra di Genetica Medica, Istituto Universitario di Medicina e Chirurgia, L'Aquila Istituto di Genetica Medica e Gemellologia Gregorio Mendel, Roma
*
Cattedra di Genetica Medica, Istituto Universitario di Medicina e Chirurgia, Via Verdi 56, l'Aquila, Italy

Abstract

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A total of 105 sibships with one or more members affected by CNS malformations have been drawn from the Mendel Institute's Eugenic Counseling file and examined. The mode of inheritance and the variability of segregation have been verified according to the presence or absence of spina bifida occulta in one or both parents.

The results obtained lead the authors to suggest that the expression of major genes responsible for the pathology be conditioned by minor genes responsible for localization.

Type
6. Free Contributions: Second Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 265 - 267
Copyright
Copyright © The International Society for Twin Studies 1974

References

BIBLIOGRAFIA

Carter, C.O., Fraser, Roberts J.A. 1967. The risk of recurrence after two children with central-nervous-system malformations. Lancet, 1: 306–308.CrossRefGoogle ScholarPubMed
Fuhrmann, W., Seeger, W., Böhm, R. 1971. Apparently monogenic inheritance of anencephaly and spina bifida in a kindred. Humangenetik, 13: 241–243.CrossRefGoogle Scholar
Gedda, L., Del Porto, G., Russo, R., Del Porto-Mercuri, A. 1961. Malformazioni del tubo neurale. Proc. 2nd. Int. Congr. Hum. Genet. Rome 1963: Ed. Inst. G. Mendel. Google Scholar
Grebe, H. 1954. Familienbefunde bei letalen Anomalien der Körperform. Acta Genet. Med. Gemellol. (Roma), 3: 93.Google Scholar
Lorher, Y. 1966. A radiological survey of spina bifida occulta in parents of children born with spina bifida cystics. Abstracts 3rd. Int. Congr. Hum. Genet. Google Scholar