Article
Preimplantation genetic testing for Marfan syndrome.
Molecular human reproduction - 1 Sept 1996
Harton G L, Tsipouras P, Sisson M E, Starr K M, Mahoney B S, Fugger E F, Schulman J D, Kilpatrick M W, Levinson G, Black S H
Abstract excerpt
Marfan syndrome (MFS) is an autosomal dominant disease that affects the skeletal, ocular and cardiovascular systems. Defects in the gene that codes for fibrillin (FBN-1) are responsible for MFS. Here we report the world's first use of preimplantation genetic testing (PGT) to achieve a clinical pr...
Topics
- Adult
- Base Sequence
- Blastomeres
- DNA Primers
- Dinucleotide Repeats
- Embryo Transfer
- Embryonic Development
- Female
- Fertilization in Vitro
- Fibrillin-1
- Fibrillins
- Heterozygote
- Homozygote
- Humans
- Infant, Newborn
- Male
- Marfan Syndrome
- Microfilament Proteins