title: A folate sensitive heritable fragile site at 19p13.
abstract: A fragile site at 19p13 was found in the mother of a newborn girl with Downs syndrome. The fragile site was expressed in medium containing low folate and by addition of FdU, whereas high folate, thymidine and thymidine-analogues inhibited the expression. This fragile site may prove valuable for linkage studies on chromosome 19.
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: J
authors.initials: J
authors.lastname: Nielsen
authors.forename: M
authors.initials: M
authors.lastname: Mikkelsen
mesh_terms: D000328:Adult; D002478:Cells, Cultured; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D002874:Chromosome Mapping; D002903:Chromosomes, Human, 19-20; D004314:Down Syndrome / Q000235:genetics; D005260:Female; D005492:Folic Acid / Q000494:pharmacology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D010375:Pedigree
chemical_list: D005492:Folic Acid