{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T16:47:46Z","timestamp":1781801266575,"version":"3.54.5"},"reference-count":88,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T00:00:00Z","timestamp":1638835200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UEFISCDI (National Romanian organism of research)","award":["PN-II-PT-PCCA-2013-4-133"],"award-info":[{"award-number":["PN-II-PT-PCCA-2013-4-133"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>We present a complex chromosomal anomaly identified using cytogenetic and molecular methods. The child was diagnosed during the neonatal period with a multiple congenital anomalies syndrome characterized by: flattened occipital region; slight turricephaly; tall and broad forehead; hypertelorism; deep-set eyes; down slanting and short palpebral fissures; epicanthic folds; prominent nose with wide root and bulbous tip; microstomia; micro-retrognathia, large, short philtrum with prominent reliefs; low set, prominent ears; and congenital heart disease. The GTG banding karyotype showed a 46,XY,der(10)(10pter\u219210q26.2::4q26\u21924qter) chromosomal formula and his mother presented an apparently balanced reciprocal translocation: 46,XX,t(4;10)(q26;q26.2). The chromosomal anomalies of the child were confirmed by MLPA, and supplementary investigation discovered a quadruplication of the 4q35.2 region. The mother has a triplication of the same chromosomal fragment (4q35.2). Using array-CGH, we described the anomalies completely. Thus, the boy has a 71,057 kb triplication of the 4q26\u2013q35.2 region, a 562 kb microdeletion in the 10q26.3 region, and a 795 kb quadruplication of the 4q35.2 region, while the mother presents a 795 kb triplication of the 4q35.2 region. Analyzing these data, we consider that the boy\u2019s phenotype is influenced only by the 4q partial trisomy. We compare our case with similar cases, and we review the literature data.<\/jats:p>","DOI":"10.3390\/genes12121957","type":"journal-article","created":{"date-parts":[[2021,12,7]],"date-time":"2021-12-07T09:52:29Z","timestamp":1638870749000},"page":"1957","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2183-0690","authenticated-orcid":false,"given":"Roxana","family":"Popescu","sequence":"first","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihaela","family":"Gr\u0103mescu","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6327-4461","authenticated-orcid":false,"given":"Lavinia","family":"Caba","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6762-4067","authenticated-orcid":false,"given":"Monica-Cristina","family":"P\u00e2nzaru","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u0103cr\u0103mioara","family":"Butnariu","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Braha","sequence":"additional","affiliation":[{"name":"\u201cC. I. Parhon\u201d National Institute of Endocrinology, 34-35 Aviatorilor Avenue, 011853 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Setalia","family":"Popa","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Rusu","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgeta","family":"Cardos","sequence":"additional","affiliation":[{"name":"Personal Genetics Laboratory Bucharest, 4 Strada Frumoasa Street, 010987 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Zeleniuc","sequence":"additional","affiliation":[{"name":"Personal Genetics Laboratory Bucharest, 4 Strada Frumoasa Street, 010987 Bucharest, Romania"},{"name":"Medical Genetics Department, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 8 Eroii Sanitari Avenue, 050474 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violeta","family":"Martiniuc","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cCuza-Vod\u0103\u201d Obstetrics and Gynecology Hospital, 34 Cuza Voda Street, 700038 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0111-6606","authenticated-orcid":false,"given":"Cristina","family":"Gug","sequence":"additional","affiliation":[{"name":"Microscopic Morphology Department, \u201cVictor Babes\u201d University of Medicine and Pharmacy, 2 Piata Eftimie Murgu, 300041 Timi\u0219oara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3850-797X","authenticated-orcid":false,"given":"Lumini\u0163a","family":"P\u0103duraru","sequence":"additional","affiliation":[{"name":"Neonatology Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Stamatin","sequence":"additional","affiliation":[{"name":"Neonatology Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen C.","family":"Diaconu","sequence":"additional","affiliation":[{"name":"Stefan S. Nicolau Institute of Virology, Romanian Academy, 285 Mihai Bravu, 030304 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eusebiu Vlad","family":"Gorduza","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, \u201cGrigore T. Popa\u201d University of Medicine and Pharmacy, 16 University Street, 700115 Iasi, Romania"},{"name":"Medical Genetics Department, \u201cCuza-Vod\u0103\u201d Obstetrics and Gynecology Hospital, 34 Cuza Voda Street, 700038 Iasi, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,7]]},"reference":[{"key":"ref_1","unstructured":"World Health Organization (2021, February 12). Congenital Anomalies. Available online: https:\/\/www.who.int\/health-topics\/congenital-anomalies#tab=tab."},{"key":"ref_2","unstructured":"Covic, M., \u015etef\u0103nescu, D., Sandovici, I., and Gorduza, E.V. (2017). Genetic\u0103 Medical\u0103, Polirom. [3rd ed.]."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"159","DOI":"10.2147\/TACG.S8884","article-title":"Disorders caused by chromosome abnormalities","volume":"3","author":"Shaffer","year":"2010","journal-title":"Appl. Clin. 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