title: Preimplantation genetic diagnosis in Marfan syndrome.
abstract: 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 established following two rounds of amplification. Whenever possible, two blastomeres were separately assayed per embryo. The transfer of five embryos resulted in a singleton pregnancy and the birth of a full-term male infant.
authors.affiliation: Department of Pediatrics, University of Connecticut Health Center, Farmington 06030, USA.
authors.forename: M W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: G L
authors.initials: GL
authors.lastname: Harton
authors.forename: L A
authors.initials: LA
authors.lastname: Phylactou
authors.forename: G
authors.initials: G
authors.lastname: Levinson
authors.forename: E F
authors.initials: EF
authors.lastname: Fugger
authors.forename: J D
authors.initials: JD
authors.lastname: Schulman
authors.forename: S H
authors.initials: SH
authors.lastname: Black
authors.forename: P
authors.initials: P
authors.lastname: Tsipouras
mesh_terms: D001757:Blastomeres / Q000737:chemistry; D004247:DNA / Q000032:analysis; D047108:Embryonic Development; D016326:Extracellular Matrix Proteins; D005260:Female; D005307:Fertilization in Vitro; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D054392:Adipokines
chemical_list: D004247:DNA; D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines