{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:37:03Z","timestamp":1777394223186,"version":"3.51.4"},"reference-count":21,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45,X[20]\/46,X,idic(Y)(p11.32)[29]\/46,XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (&lt;i&gt;SRY&lt;\/i&gt;), centromere X\/Y (CEP X\/Y), and short stature homeobox (&lt;i&gt;SHOX&lt;\/i&gt;) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment.<\/jats:p>","DOI":"10.1159\/000495201","type":"journal-article","created":{"date-parts":[[2018,11,30]],"date-time":"2018-11-30T22:01:29Z","timestamp":1543615289000},"page":"41-46","source":"Crossref","is-referenced-by-count":2,"title":["A Rare Mosaic Karyotype of 45,X\/46,X,psu idic(Y)(p11.32)\/46,XY with &lt;b&gt;&lt;i&gt;SHOX&lt;\/i&gt;&lt;\/b&gt; Haploinsufficiency, External Male Genitalia, and Short Stature"],"prefix":"10.1159","volume":"13","author":[{"given":"Cemal","family":"Ekici","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynep","family":"Esener","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Selcen","family":"Korkmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nihal","family":"Salt\u00fcrk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sengul","family":"Y\u00fcksel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Ko\u00e7","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,12,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.66.2.252"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-1222"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/and.12278"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30027"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0767-6"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090106"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000356173"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1159\/000338413"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.17219\/acem\/67051"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<99::AID-AJMG3>3.0.CO;2-C"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng0597-54"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<441::AID-AJMG11>3.0.CO;2-U"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3109\/00365599609182354"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)62565-5"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2017.6569"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/S0090-4295(99)80431-2"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1038\/346240a0"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-6646(09)60327-2"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/3.8.709"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10422"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/495201","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/495201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:11:53Z","timestamp":1745428313000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000495201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,1]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,4,4]]},"published-print":{"date-parts":[[2019,3,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000495201","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,1]]}}}