A folate sensitive heritable fragile site at 19p13.
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.
Tommerup
N
N
Nielsen
J
J
Mikkelsen
M
M
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
D005492:Folic Acid