{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T05:59:06Z","timestamp":1698299946934},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4567,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Several organizations have proposed guidelines for fra(X) studies on peripheral blood lymphocytes. To evaluate these guidelines, we reviewed 1,033 consecutive specimens referred for fra(X) analysis. Each specimen was cultured with medium 199 and RPMI 1640 with 5\u2010fluorodeoxyuridine or excess thymidine. The karyotype and expression of fra(X) were established from 20 GTL\u2010 or QFQ\u2010banded cells and by screening of up to 130 more banded cells. We found anomalies other than fra(X) in 37 (3.6%) of the patients. We found 4% or more fra(X) cells in 38 (3.7%) cases from 36 unrelated families, including 33 (3.9%) of 850 males and 5 (2.7%) of 183 females. Another 4 females had 1 to 3% fra(X) cells. Six specimens were fra(X)\u2010positive in only one stress system, and 32 were positive in 2 systems. To find the first 2 fra(X) cells in males, we needed to study up to 36 cells in 31 cases, 50 in one case, and 57 in another. To find the first 2 fra(X) cells in females, we needed to study up to 17 cells in 4 cases and 57 in another. A strong family history of fra(X) occurred in 5 patients, and each one was fra(X)\u2010positive. Some manifestations of the fragile X syndrome occurred in 507 cases, 17 (3%) of which were fra(X)\u2010positive. Abnormalities considered unlikely to be the fragile X syndrome occurred in 103 cases, 3 (3%) of which were fra(X)\u2010positive. Use of chromosome breakage and fra(3)(p14) as quality control indicators of the fra(X) stress systems was found to be unreliable. Our findings support most of the proposed guidelines for fra(X) studies but indicate a need for modifications of others. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440620","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:38:31Z","timestamp":1118507911000},"page":"816-821","source":"Crossref","is-referenced-by-count":5,"title":["Cytogenetic guidelines for fragile X studies tested in routine practice"],"prefix":"10.1002","volume":"44","author":[{"given":"Gordon W.","family":"Dewald","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane D.","family":"Buckley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack L.","family":"Spurbeck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syed M.","family":"Jalal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"500","volume-title":"CPT: Physicians' Current Procedural Terminology","author":"American Medical Association","year":"1990"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284722"},{"key":"e_1_2_1_4_1","first-page":"1","volume-title":"Clinical Laboratory Improvement Manual II: Checklist and Commentaries","author":"College of American Pathologists","year":"1991"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/349742a0"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320180318"},{"key":"e_1_2_1_7_1","first-page":"320","article-title":"Tables for the cytogenetic study of fragile X chromosomes for diagnostic purposes","volume":"24","author":"De Arce MA","year":"1983","journal-title":"Clin Genet"},{"key":"e_1_2_1_8_1","unstructured":"Department of Health and Human Services(1991):Health Care Financing Administration. 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