title: Endoreduplication and polyploidy in fragile X cells induced by methotrexate and fluorodeoxyuridine: implications for diagnosis.
abstract: Lymphoblastoid cell lines from fragile X patients and amniotic cells from fragile X embryos, when cultured with methotrexate (MTX) or fluorodeoxyuridine (FUdR), showed a significant increase in endoreduplication and polyploidy. This phenomenon was not observed in fragile X lymphocytes or in lymphoblastoid cell lines and amniotic cells of normal control individuals. The relationship between the inducible fragile site at Xq27.3 and the inducible endoreduplication is discussed. The induction of endoreduplication and polyploidy in fragile X lymphoblasts and amniocytes is evaluated as a possible diagnostic test.
authors.affiliation: Department of Human Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: C
authors.initials: C
authors.lastname: Kimchi-Sarfaty
authors.forename: R
authors.initials: R
authors.lastname: Goitein
authors.forename: B
authors.initials: B
authors.lastname: Kerem
authors.forename: M
authors.initials: M
authors.lastname: Werner
authors.forename: B
authors.initials: B
authors.lastname: Meidan
authors.forename: T
authors.initials: T
authors.lastname: Schaap
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology; D002455:Cell Division / Q000187:drug effects; D002478:Cells, Cultured; D004622:Embryo, Mammalian / Q000473:pathology; D005467:Floxuridine / Q000494:pharmacology*; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000473:pathology; D006412:Hematopoietic Stem Cells / Q000187:drug effects / Q000648:ultrastructure*; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects / Q000648:ultrastructure*; D008727:Methotrexate / Q000494:pharmacology*; D008938:Mitosis / Q000187:drug effects; D011123:Polyploidy; D016196:S Phase / Q000187:drug effects
chemical_list: D005467:Floxuridine; D008727:Methotrexate