{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:26:58Z","timestamp":1792124818685,"version":"4.4.0"},"reference-count":12,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T00:00:00Z","timestamp":1658361600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Scott Med J"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Ring chromosomes arise from breakage and fusion at distal regions of short and long arms of the chromosomes. The effect of the ring chromosome on the phenotype may vary widely depending on the amount of the deletion in the chromosomal areas and genes implicated in these regions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>We present a 35-year-old male patient with infertility and mild intellectual disability (MID) who has de novo ring 13 (r(13)) chromosomes. To determine chromosomal abnormality, we performed karyotype analysis, Y chromosome microdeletion analysis, FISH, and aCGH techniques.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The patient\u2019s karyotype analysis result was mos46,XY,r(13)(p13q34)[75]\/45,XY,-13[14]\/46,XY,dic (13;13)[8]\/47,XY,r(13),\u2009+\u2009r(13)[2]\/46,XY,tetrac r(13;13;13;13)[1]. FISH analysis supported the findings of the cytogenetic analysis. Y microdeletion analysis showed that the AZF region was intact. On aCGH analysis, we detected a 1.5 megabase deletion at the end of chromosome 13, including the CHAMP1 gene. The loss of the CHAMP1 gene, in particular, may explain our patient's MID, and the other deleted genes at 13q34 may explain our patient's infertility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/00369330221114426","type":"journal-article","created":{"date-parts":[[2022,7,21]],"date-time":"2022-07-21T11:27:39Z","timestamp":1658402859000},"page":"173-177","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13"],"prefix":"10.1177","volume":"67","author":[{"given":"Murat","family":"Kaya","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1954-4190","authenticated-orcid":false,"given":"Ilknur","family":"Suer","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tugba","family":"Kalayci","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birsen","family":"Karaman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, Istanbul, Turkey"},{"name":"Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukru","family":"Ozturk","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukru","family":"Palanduz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2022,7,21]]},"reference":[{"key":"bibr1-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1038\/aja.2011.66"},{"key":"bibr2-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-010-9055-2"},{"key":"bibr3-00369330221114426","first-page":"44","volume":"35","author":"Kosztolanyi G","year":"2009","journal-title":"J Assoc Genet Technol"},{"key":"bibr4-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.10.723"},{"key":"bibr5-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1186\/1752-1947-5-99"},{"key":"bibr6-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/7250838"},{"key":"bibr7-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591082"},{"key":"bibr8-00369330221114426","first-page":"208","volume":"6","author":"Fang X AJD","year":"2013","journal-title":"N A J Med Sci"},{"key":"bibr9-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30242"},{"key":"bibr10-00369330221114426","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.109.009738"},{"key":"bibr11-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2011.05.013"},{"key":"bibr12-00369330221114426","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.003"}],"container-title":["Scottish Medical 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