Article
Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders.
Prenatal diagnosis - 1 Jun 2002
Harper Joyce C, Wells Dagan, Piyamongkol Wirawit, Abou-Sleiman Patrick, Apessos Angela, Ioulianos Antonis, Davis Mary, Doshi Alpesh, Serhal Paul, Ranieri Massimo, Rodeck Charles, Delhanty Joy D A
Abstract excerpt
We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [Delta F508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and two disorders for which PGD had not been previously attempted, namely neurofibromatosis type 2...
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