{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:36:18Z","timestamp":1792643778581,"version":"4.5.0"},"reference-count":0,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"04","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY,\u2009+\u200921 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome.<\/jats:p>","DOI":"10.1055\/s-0037-1604098","type":"journal-article","created":{"date-parts":[[2017,7,6]],"date-time":"2017-07-06T19:27:00Z","timestamp":1499369220000},"page":"241-243","source":"Crossref","is-referenced-by-count":11,"title":["A Rare Double Aneuploidy Case (Down\u2013Klinefelter)"],"prefix":"10.53391","volume":"06","author":[{"given":"Atil","family":"Bisgin","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sevcan","family":"Bozdogan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2017,7,6]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0037-1604098.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:28Z","timestamp":1758138328000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0037-1604098"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,6]]},"references-count":0,"journal-issue":{"issue":"04","published-online":{"date-parts":[[2017,11,13]]},"published-print":{"date-parts":[[2017,12]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0037-1604098","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,6]]}}}