{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:10:17Z","timestamp":1699830617490},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9284,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1980,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 22\u2010year\u2010old woman with primary amenorrhea, bilateral gonadoblastomas, and short stature (148.0 cm), but no other signs of the Ullrich\u2010Turner syndrome. There were three cell lines identified in peripheral blood lymphocytes \u2013 45,X (30%), 46,XY (60%), and 46,X,tan dic(Y) (10%). Cells cultured from gonadal biopsies showed only the 45,X karyotype. However, frozen sections of the biopsies showed frequent single and rare double\u2010Y\u2010chromatin bodies. Lymphocytes were H\u2010Y antigen\u2010negative.<\/jats:p><jats:p>This previously undescribed structurally abnormal chromosome probably consists of two Y chromosomes attached end\u2010to\u2010end in a tandem translocation. One of the centromeres forms the primary (functional) constriction, the other being detectable only as C\u2010positive material on each chromatid, so presumably inactive. The discrepancy between the presence of Y\u2010chromatin in frozen sections of the gonads and its absence from karyotype in gonadal cultures is indicative of cell selection in tissue culture. Finally, the case confirms the high risk of gonadoblastoma in women with a Y chromosome, even in the absence of H\u2010Y antigen.<\/jats:p>","DOI":"10.1002\/ajmg.1320070205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:38:10Z","timestamp":1118511490000},"page":"115-122","source":"Crossref","is-referenced-by-count":2,"title":["Dicentric Y chromosome arising via tandem translocation"],"prefix":"10.1002","volume":"7","author":[{"given":"Riitta","family":"Herva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irja","family":"Saarinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helka","family":"Savikurki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"de la Chapelle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010302"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1159\/000130686"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282002"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000131399"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446273"},{"key":"e_1_2_1_7_1","first-page":"229","article-title":"\u201cMixed\u201d gonadal dysgenesis, a case with male phenotype and 45,X\/46,XY mosaicism","volume":"65","author":"Hortling H","year":"1970","journal-title":"Acta Endocrinol"},{"key":"e_1_2_1_8_1","first-page":"5","article-title":"A theory explaining the abnormality in 45,X\/46,XY mosaicism with non\u2010fluorescent Y chromosome. Presentation of three cases","volume":"21","author":"Kaluzewski B","year":"1978","journal-title":"Ann Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.929180"},{"key":"e_1_2_1_10_1","first-page":"210","article-title":"Abnormal Y chromosomes and monosomy 45,X. A concept derived from a study of three patients","volume":"7","author":"Morillo\u2010Cucci G","year":"1971","journal-title":"Birth Defects"},{"key":"e_1_2_1_11_1","first-page":"458","article-title":"Sexual and somatic determinants of the human Y chromosome: Studies in a 46,XYp\u2010phenotypic female","volume":"31","author":"Rosenfeld RG","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","unstructured":"SavikurkiH PajunenL AnderssonLC de la ChapelleA(1980):A radioimmunoassay for the detection of H\u2010Y\u2010antigen. (Manuscript in preparation)."},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273104"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)90287-X"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447477"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(72)90558-7"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0142(196708)20:8<1301::AID-CNCR2820200814>3.0.CO;2-4"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(79)90085-0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320070205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320070205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T22:36:45Z","timestamp":1699828605000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320070205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,1]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,1]]}},"alternative-id":["10.1002\/ajmg.1320070205"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320070205","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,1]]}}}