Article
Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report.
Journal of perinatal medicine - 1 Jan 1995
Turco A E, Padovani E M, Peissel B, Chiaffoni G P, Rossetti S, Gammaro L, Maschio G, Pignatti P F
Abstract excerpt
Bilateral polycystic kidneys were detected by ultrasound at 23 weeks gestation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus' mother and grandmother, suggesting the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The renal ul...
Topics
- Blotting, Southern
- DNA
- Diagnosis, Differential
- Female
- Genetic Linkage
- Humans
- Infant, Newborn
- Italy
- Lod Score
- Male
- Pedigree
- Phenotype
- Polycystic Kidney, Autosomal Dominant
- Polymerase Chain Reaction
- Polymorphism, Genetic