title: [Present possibilities of prenatal diagnosis of Fabry's disease].
abstract: Fabry's disease (angiokeratoma corporis diffusum universale) is an inborn error of metabolism, which is based on a shortage in the cumulation of glycosphingolipids in endothelial and epithelial cells of glomeruli, vascular endothelia and in ganglion cells with subsequent severe organ damage. Heredity is X-linked recessive. In the submitted paper the authors present a case-history of a family where three men were affected and carriership was confirmed in five women. During the first pregnancy one of them a successful prenatal diagnosis was made from cultivated amniotic fluid cells. Chromosomal examination revealed female sex and the levels of the alpha-galactosidase A were established in cultivated cells. A healthy girl was delivered.
authors: Ustav lékarské genetiky LF UP Olomouc.
authors: J
authors: J
authors: Santavý
authors: A
authors: A
authors: Santavá
authors: I
authors: I
authors: Simek
authors: J
authors: J
authors: Macák
authors: J
authors: J
authors: Dusek
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D010375:Pedigree; D011296:Prenatal Diagnosis
vernacular_title: Soucasné moznosti prenatální diagnostiky Fabryho choroby.