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- Title
Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases.
- Authors
Stuhrmann, Manfred; Brakensiek, Kai; Argyriou, Loukas; Boehm, Ingolf; Hinderhofer, Katrin; Bauer, Ingrid; Rhode, Britta M; Maelzer, Madeleine; Zuehlke, Christine; Krueger, Gabriele; Schmidtke, Joerg
- Abstract
The article presents two cases that promote the need to assign the parental alleles, particularly in the context of prenatal diagnosis of cystic fibrosis (CF) or carrier testing. The cases involve a newborn Turkish girl and an almost 2-year-old girl, both were diagnosed with CF. Moreover, the authors conclude that commercial CFTR kits cannot guarantee correct results for all possible mutations and suggests that CFTR genotypes of CF patients should always be confirmed by testing the parents.
- Subjects
CYSTIC fibrosis diagnosis; GENETIC disorders in children; PRENATAL diagnosis; GENOTYPE-environment interaction; DIAGNOSIS; PARENTS
- Publication
European Journal of Human Genetics, 2009, Vol 17, Issue 4, p417
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2008.190