{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:47:55Z","timestamp":1777524475679,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[1996,2,1]],"date-time":"1996-02-01T00:00:00Z","timestamp":823132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr (Phila)"],"published-print":{"date-parts":[[1996,2]]},"abstract":"<jats:p>A phenotypic female aged 15 4\/12 years was referred because of delayed puberty and short stature. Chromosomal analysis of peripheral blood leukocytes revealed two subpopulations of cells. The modal cell line was hypodiploid with a missing X chromosome while the other cell line was diploid with one X chromosome and a G-sized chromosome that resembled a Y chromosome in morphology. Subsequent fluorescent in situ hybridization yielded results consistent with the above conventional cytogenetic studies. To provide unequivocal evidence of the Y-chromosome material, molecular analyses using the polymerase chain reaction and various primers were carried out which identified an intact short arm and centromere of the Y chromosome and structurally altered long arms. A laparoscopic bilateral gonadectomy, performed because of the risk of neoplasia, also yielded cells with both 45,X and 46,XY karyotypes. The present report thus illustrates the usefulness of a combined approach for diagnosing delayed puberty.<\/jats:p>","DOI":"10.1177\/000992289603500202","type":"journal-article","created":{"date-parts":[[2007,11,26]],"date-time":"2007-11-26T17:50:16Z","timestamp":1196099416000},"page":"62-66","source":"Crossref","is-referenced-by-count":7,"title":["A Combined Cytogenetic and Molecular Approach for Diagnosing Delayed Puberty"],"prefix":"10.1177","volume":"35","author":[{"family":"Hon Fong Louie Mark","sequence":"first","affiliation":[{"name":"Laboratory of Cytogenetics, FISH and Genotoxicology, Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janet K.","family":"Bayleran","sequence":"additional","affiliation":[{"name":"Eastern Maine Medical Center, Bangor, Maine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David B.","family":"Seifer","sequence":"additional","affiliation":[{"name":"Women and Infants Hospital and Brown University School of Medicine, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia H.","family":"Meyers-Seifer","sequence":"additional","affiliation":[{"name":"Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1996,2,1]]},"reference":[{"key":"atypb1","first-page":"153","volume":"24","author":"Mark Hfl.","year":"1994","journal-title":"Ann Clin Lab Sci."},{"key":"atypb2","first-page":"375","volume":"77","author":"Mark Hfl.","year":"1994","journal-title":"Rhode Island Medicine"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1159\/000133435"},{"key":"atypb4","first-page":"462","volume":"20","author":"Nowell P.","year":"1960","journal-title":"Cancer Res."},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(60)90138-5"},{"key":"atypb6","first-page":"31","volume":"232","author":"Sumner AT","year":"1971","journal-title":"Nature."},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"atypb8","volume-title":"An InternationalSystem forHuman Cytogenetic Nomenclature (1985)","author":"Harden DG","year":"1985"},{"key":"atypb9","first-page":"291","volume":"25","author":"Mark Hfl","year":"1994","journal-title":"Ann Clin Lab Sci."},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390420"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1126\/science.1439769"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291174"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291168"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91969-7"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1097\/00006254-198602000-00002"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.humrep.a137380"},{"key":"atypb17","unstructured":"Connor JM, Loughlin Sar. 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