{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T23:19:30Z","timestamp":1648595970688},"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> We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient\u2019s clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies<\/jats:p>","DOI":"10.2478\/bjmg-2013-0034","type":"journal-article","created":{"date-parts":[[2014,3,12]],"date-time":"2014-03-12T20:10:56Z","timestamp":1394655056000},"page":"67-72","source":"Crossref","is-referenced-by-count":2,"title":["DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA"],"prefix":"10.2478","volume":"16","author":[{"given":"A.","family":"Sireteanu","sequence":"first","affiliation":[{"name":"1Department of Medical Genetics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Ia\u015fi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Volo\u015fciuc","sequence":"additional","affiliation":[{"name":"2Medical Genetics Center, \u201cSf. Maria\u201d Children\u2019s Hospital, Ia\u015fi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gr\u0103mescu","sequence":"additional","affiliation":[{"name":"1Department of Medical Genetics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Ia\u015fi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ev.","family":"Gorduza","sequence":"additional","affiliation":[{"name":"1Department of Medical Genetics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Ia\u015fi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Vulpoi","sequence":"additional","affiliation":[{"name":"3Department of Endocrinology, \u201dGrigore T. Popa\u201d University of Medicine and Pharmacy, Ia\u015fi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Frunz\u0103","sequence":"additional","affiliation":[{"name":"4Department of Neurology, CF Hospital, Ia\u015fi, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Rusu","sequence":"additional","affiliation":[{"name":"1Department of Medical Genetics, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, Ia\u015fi, Romania"}],"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-p67.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/content.sciendo.com\/downloadpdf\/journals\/bjmg\/16\/2\/article-p67.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T16:15:34Z","timestamp":1590768934000},"score":1,"resource":{"primary":{"URL":"https:\/\/content.sciendo.com\/doi\/10.2478\/bjmg-2013-0034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,1]]},"references-count":0,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.2478\/bjmg-2013-0034","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"print"}],"subject":[],"published":{"date-parts":[[2013,12,1]]}}}