The present paper reports the results of an epidemiological, genetic and clinical study on neurofibromatosis type I (NF1) . Data were obtained from the North East Italy NF1 Registry, established in 1 980, which collects information on NF1 families referred for confirmation of diagnosis and for genetic counselling. The total sample includes 143 families with 148 probands and 220 affected individuals. A diagnostic protocol was applied including clinical an d laboratory evaluations of all affected subjects and their first degree relatives. The following estimates ofNF7 parameters have been reported: 1) North East Italy incidence (1 /4, 292 inhabitants); 2) mutation rate (6. 5 /1 00, 000 gametes/generation); 3) proportion of sporadic cases (5 6. 3 To); 4) frequency of diagnostic and associated clinical fin dings by age class.
Registro Nord Est Italia della neurofibromatosi tipo 1. Studio epidemiologico.
CLEMENTI, MAURIZIO;MONCIOTTI, CARLAMARIA;
1990
Abstract
The present paper reports the results of an epidemiological, genetic and clinical study on neurofibromatosis type I (NF1) . Data were obtained from the North East Italy NF1 Registry, established in 1 980, which collects information on NF1 families referred for confirmation of diagnosis and for genetic counselling. The total sample includes 143 families with 148 probands and 220 affected individuals. A diagnostic protocol was applied including clinical an d laboratory evaluations of all affected subjects and their first degree relatives. The following estimates ofNF7 parameters have been reported: 1) North East Italy incidence (1 /4, 292 inhabitants); 2) mutation rate (6. 5 /1 00, 000 gametes/generation); 3) proportion of sporadic cases (5 6. 3 To); 4) frequency of diagnostic and associated clinical fin dings by age class.
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