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[Genetic counseling in neurofibromatosis. Apropos of a study of 53 families].

Abstract
Referring to a retrospective study of 53 families affected with neurofibromatosis and seen in genetic consultation from January 1977 to September 1987, the authors emphasize the difficulties of genetic counselling in this disease due to its variable expressivity with unforeseeable natural evolution and to the difficulty in detecting minor forms without biological markers. These results confirm previous studies (Carey 1979, Riccardi 1981): About half the cases are relevant to a neomutation and in these sporadic cases, the average paternal age is significantly increased (36.7 years). In familial cases, an intrafamilial variable expressivity is noted in 63.3% of families and no maternal effect is found. The penetrance of the disease, calculated from the familial cases, is estimated to 97% which confirmed the anterior data. The severe forms rate (grades III and IV) is about the same for familial cases, than in previous publications, but is higher for sporadic cases than the proportion described by Riccardi (25 to 30%) probably because of an ascertainment bias. Finally, If the risk for the offspring of an affected patient can be estimated at 1/2, however it is impossible to predict the severity of the disease. Before concluding to a neomutation (1st child of a couple) or to an absence of genetic risk (non affected person related to a familial case), a minor form must be searched by a careful physical examination, although the recent localization of the gene allows us to think of molecular biology for familial studies in a near future.
AuthorsA Toutain, J Kaplan, M L Briard, J Frézal
JournalJournal de genetique humaine (J Genet Hum) Vol. 36 Issue 3 Pg. 163-71 (Jun 1988) ISSN: 0021-7743 [Print] Switzerland
Vernacular TitleLe conseil génétique dans la neurofibromatose. A propos d'une étude de 53 familles.
PMID3137311 (Publication Type: English Abstract, Journal Article)
Topics
  • Female
  • Genetic Counseling
  • Humans
  • Male
  • Neurofibromatosis 1 (genetics)
  • Retrospective Studies

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