Article
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.
American journal of human genetics - 1 May 1995
Guay-Woodford L M, Muecher G, Hopkins S D, Avner E D, Germino G G, Guillot A P, Herrin J, Holleman R, Irons D A, Primack W
Abstract excerpt
Autosomal recessive polycystic kidney disease (ARPKD) is a one of the most common hereditary renal cystic diseases in children. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life. At present, prenatal diagn...
Topics
- Amniocentesis
- Chromosome Mapping
- Chromosomes, Human, Pair 6
- Female
- Genes, Recessive
- Genetic Counseling
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Humans
- Infant, Newborn
- Kidney
- Male
- Pedigree