{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T14:26:28Z","timestamp":1698157588492},"reference-count":8,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":6247,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have had experience with 160 prenatal diagnosis cases for the fragile X syndrome [fra(X)] or Martin\u2010Bell Syndrome. In 140, amniotic fluid was utilized; 98 had a documented family history of fra(X). The 94 completed cases included 4 no growth; 56 males of which 7 were fra(X)\u2010positive and 2 false\u2010negative; 38 females of which 5 were fra(X) positive. There was no fra(X) positive result when a family history of mental retardation was not documented as fra(X). Molecular methods (RFLPs) were utilized in 10 amniotic fluid and 5 chorionic villus specimens (CVS). Percutaneous umbilical blood sampling was used in 2 negative cases and 1 fra(X) positive case because of timing, tissue culture failure or confirmation of another method. CVS were received in 13 cases, and RFLPs were utilized in 5 of the CVS cases. There was no positive fra(X) CVS chromosome result in males, 1 positive result in a female, but 2 false negatives were detected by RFLPs.<\/jats:p>","DOI":"10.1002\/ajmg.1320300135","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:16:11Z","timestamp":1118546171000},"page":"347-354","source":"Crossref","is-referenced-by-count":19,"title":["Experience with multiple approaches to the prenatal diagnosis of the fragile X syndrome: Amniotic fluid, chorionic villi, fetal blood and molecular methods"],"prefix":"10.1002","volume":"30","author":[{"given":"Lawrence R.","family":"Shapiro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick L.","family":"Wilmot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia D.","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Roy","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132167"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91531-2"},{"key":"e_1_2_1_4_1","volume-title":"Nucleic Acid Probes and Diagnoses of Human Genetic Disease","author":"Murphy PD"},{"key":"e_1_2_1_5_1","first-page":"A226","article-title":"Spontaneous fragile X positive amniocytes in routine amniotic fluid cell culture","volume":"37","author":"Shapiro LR","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230125"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90230-6"},{"key":"e_1_2_1_8_1","first-page":"A265","article-title":"Prenatal onset of macroorchidism in the fragile X syndrome","volume":"39","author":"Shapiro LR","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)92838-5"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320300135","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320300135","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T11:44:14Z","timestamp":1693395854000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320300135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":8,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1002\/ajmg.1320300135"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320300135","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}