Endoreduplication and polyploidy in fragile X cells induced by methotrexate and fluorodeoxyuridine: Implications for diagnosis

C. Kimchi-Sarfaty, R. Goitein, B. Kerem, M. Werner, B. Meidan, T. Schaap*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

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.

Original languageEnglish
Pages (from-to)429-433
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume38
Issue number2-3
DOIs
StatePublished - 1991

Keywords

  • amniocytes
  • endoreduplication polyploidy
  • fragile Xq27.3
  • lymphoblasts

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