Article
A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening.
Public health genomics - 1 Jan 2016
Prontera Paolo, Isidori Ilenia, Mencarini Valeria, Pennoni Guido, Mencarelli Amedea, Stangoni Gabriela, Di Cara Giuseppe, Verrotti Alberto
Abstract excerpt
Genetic testing strategies and counseling in cystic fibrosis (CF) can be problematic due to its extreme allelic heterogeneity and the difficult clinical interpretation of rare variants. Since in a previous survey of Italian CF patients, Umbria (a small region with about 900,000 inhabitants) was excluded due to the low number of chromosomes tested (<50), we have performed a comprehensive retrospective clinical and...
Topics
- Adolescent
- Adult
- Alleles
- Child
- Child, Preschool
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Disclosure
- Female
- Gene Frequency
- Genetic Testing
- Genotype
- Health Surveys