title: Prenatal diagnosis of hereditary amyloidosis in a Portuguese family.
abstract: Portuguese-type amyloidosis is an autosomal dominant condition caused by a point mutation of the prealbumin (transthyretin) gene. The mutation can be detected directly by the presence of a restriction site for Nsil. We report the first prenatal diagnosis for this condition, performed in the first trimester by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
authors.affiliation: University Institute of Medical Genetics, Department of Paediatrics and Medical Genetics, Geneva, Switzerland.
authors.forename: M
authors.initials: M
authors.lastname: Morris
authors.forename: W
authors.initials: W
authors.lastname: Nichols
authors.forename: M
authors.initials: M
authors.lastname: Benson
mesh_terms: D000686:Amyloidosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis