Article
Impact of genetic testing and family health history of cystic fibrosis in the early prenatal diagnosis and prevention of a new case of genetic disorder.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie - 1 Jan 2019
Albu Cristina Crenguţa, Stancu Ioana Georgeta, Grigore Liliana Georgiana, Albu Dinu Florin, Albu Ştefan Dimitrie, Pătraşcu Anca, Gogănău Alexandru Marian
Abstract excerpt
Cystic fibrosis (CF) is a multi-system autosomal recessive disorder, results of mutations in the CF transmembrane conductance regulator (CFTR) gene, located on the long arm of chromosome 7. We present a special family couple with particular medical history of CF, who comes to our Clinic for genetic tests and a prenatal genetic counseling, to prevent the birth of a new affected CF child. Genetic analysis showed...
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