GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION
Makaleler > Tam Makale · 2016
Yazarlar: Tahir ATİK, M. S. GUVENC, HÜSEYİN ONAY, Feriştah Ferda ÖZKINAY, Muhsin Özgür ÇOĞULU
GENETIC COUNSELING, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 27, ss 381-384
Özet
Genetic counselling in Feingold syndrome and a novel mutation: Feingold syndrome (FS) is an autosomal dominant hereditary disorder characterised by finger and toe abnormalities, microcephaly, facial dysmorphism, gastrointestinal atresias such primarily as oesophageal and/or duodenal atresia and mild to moderate mental retardation. Approximately 60% of cases have an affected parent. MYCN is the only gene in which mutations are known to cause FS. In this report, we present a case with Feingold Syndrome having a novel mutation in MYCN gene and discuss genetic counselling and prenatal diagnosis due to pregnancy of the patient's mother.