{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T22:50:12Z","timestamp":1774651812898,"version":"3.50.1"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p> A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported<\/jats:p>","DOI":"10.2478\/bjmg-2013-0038","type":"journal-article","created":{"date-parts":[[2014,3,12]],"date-time":"2014-03-12T20:10:56Z","timestamp":1394655056000},"page":"85-89","source":"Crossref","is-referenced-by-count":7,"title":["DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE"],"prefix":"10.2478","volume":"16","author":[{"given":"X.","family":"Shu","sequence":"first","affiliation":[{"name":"1Department of Pediatrics, the Children\u2019s Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People\u2019s Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Zou","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, the Children\u2019s Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People\u2019s Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Shen","sequence":"additional","affiliation":[{"name":"1Department of Pediatrics, the Children\u2019s Hospital of Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou, People\u2019s Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"link":[{"URL":"https:\/\/content.sciendo.com\/view\/journals\/bjmg\/16\/2\/article-p85.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/content.sciendo.com\/downloadpdf\/journals\/bjmg\/16\/2\/article-p85.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T16:15:36Z","timestamp":1590768936000},"score":1,"resource":{"primary":{"URL":"https:\/\/content.sciendo.com\/doi\/10.2478\/bjmg-2013-0038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,1]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.2478\/bjmg-2013-0038","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12,1]]}}}