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 pregnancy and live birth of a baby free of a Marfan mutation. One or two blastomeres from each embryo were tested for a...
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