GENETIC COUNSELLING IN FEINGOLD SYNDROME AND A NOVEL MUTATION


ATİK T. , GUVENC M. S. , ONAY H. , ÖZKINAY F. F. , Cogulu O.

GENETIC COUNSELING, cilt.27, ss.381-384, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 27 Konu: 3
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: 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.