{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:44:46Z","timestamp":1693503886729},"reference-count":7,"publisher":"Wiley","issue":"2-3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":5240,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Expression of fragile X [fra(X)] (q27.3) and en\u2010doreduplicated metaphases have been reported in methotrexate\u2010treated (MTX) fra(X) cultures (Kerem B, Biotein R, Schaap T [1988]: Chromosoma 97: 6\u201310). Further, new data (Kimchi\u2010Sarfaty C, Goitein R, Kerem B, Werner M, Medan B, Schaap T [1991]: Am J Med Genet, this issue) indicate that MTX may specifically induce polyploidy and endo\u2010reduplication in cells with the fra(X) mutation. To confirm and extend these results, we have studied short\u2010term lymphocyte cultures incubated in M199, a folate deficient system, and RPMI\u20101640 in the presence and absence of 5\u2010fluorodeoxyuridine (FUdR) exposure during the last day of a 4 day culture. No endo\u2010reduplicated cells were seen under these conditions and there was no change in the level of polyploidy. We also studied the distribution of polyploid and endoreduplicated cells in amniotic fluid and chorionic villus sample cultures from one fra(X) positive and 4 at\u2010risk specimens. No increase in the incidence of polyploidy or endoreduplication was observed in cultures exposed to MTX for both 24 and 48 hours from a fra(X) positive amniotic fluid case. Cytogenetic results were fra(X) negative for the remaining 4 cases tested. There was significant discordance between our findings and those expected based on MTX\u2010induced increased frequencies of polyploidy and endoreduplication. Thus, our studies do not confirm the reported correlation between the presence of FRAXA and increased frequencies of polyploidy and endoreduplication in MTX\u2010exposed amniocyte cultures and there was no evidence for increased levels of polyploidy and endoreduplication in short\u2010term fra(X) lymphocyte cultures exposed to non\u2010MTX fra(X) induction.<\/jats:p>","DOI":"10.1002\/ajmg.1320380258","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:09:12Z","timestamp":1118549352000},"page":"434-436","source":"Crossref","is-referenced-by-count":2,"title":["Distribution of diploidy, polyploidy, and endoreduplication in fra(X) positive and negative lymphocytes, amniocytes, and chorionic Villi"],"prefix":"10.1002","volume":"38","author":[{"given":"Edmund C.","family":"Jenkins","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maureen M.","family":"Sanz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James H.","family":"Ray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra L.","family":"Stark\u2010Houck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Ted","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"11","volume-title":"Nucleic Acid Probes in Diagnosis of Human Genetic Diseases","author":"Brown WT","year":"1988"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278177"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291722"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230145"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","unstructured":"JenkinsEC KrawczunMS Stark\u2010HouckSL DuncanCJ KunapornS GuH Schwartz\u2010RichsteinC Howard\u2010PeeblesPN GrossA BrownWT(1991) Improved prenatal detection of fra(X) (q27): Methods for prevention of false negatives in chorionic villus and amniotic fluid cell cultures.Am J Med Genet this issue.","DOI":"10.1002\/ajmg.1320380262"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00331789"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","unstructured":"Kimchi\u2010SarfatyC GoiteinR KeremB WernerM MedianB SchaapT(1991) Endoreduplication and polyploidy in fragile X cells induced by methotrexate and FUdR: Implications for diagnosis.Am J Med Genet(this issue.).","DOI":"10.1002\/ajmg.1320380257"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320380258","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320380258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T12:51:36Z","timestamp":1693399896000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320380258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,2]]},"references-count":7,"journal-issue":{"issue":"2-3","published-print":{"date-parts":[[1991,2]]}},"alternative-id":["10.1002\/ajmg.1320380258"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320380258","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,2]]}}}