Article
Preimplantation genetic diagnosis in Marfan syndrome.
Fetal diagnosis and therapy - 1 Jan 2000
Kilpatrick M W, Harton G L, Phylactou L A, Levinson G, Fugger E F, Schulman J D, Black S H, Tsipouras P
Abstract excerpt
The in vitro fertilization technology coupled with the ability to amplify DNA from a single cell has been used for the preimplantation genetic diagnosis of Marfan syndrome. An intragenic FBN1 gene marker has been used to track the inheritance of this disorder in a family. Marker genotyping was es...
Topics
- Blastomeres
- DNA
- Embryonic Development
- Extracellular Matrix Proteins
- Female
- Fertilization in Vitro
- Fibrillin-1
- Fibrillins
- Genotype
- Haplotypes
- Humans
- Male
- Marfan Syndrome