{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:42:40Z","timestamp":1777329760015,"version":"3.51.4"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2021,6,1]],"date-time":"2021-06-01T00:00:00Z","timestamp":1622505600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The knowledge about genetic involvement in neurodevelopmental disorders, and especially in autism, is currently rising. To date, more than 100 gene mutations related to autistic syndromes have been described. Some disorders that affect multiple family members are caused by gene mutations, which can be inherited. Recently, array comparative genomic hybridization (aCGH) has identified sub microscopic deletions and duplications as a common cause of mental retardation and autism. In this article we report the occurrence of the same genetic finding (chromosome 16p13.11-p12.3 duplication) in a family with four small children, where two older siblings manifested a global neurodevelopmental delay associated with an autism spectrum disorder (ASD), but younger twin brothers with the same mutation, have typical development. Genetic analysis showed that the chromosomal duplication was inherited from the father, in which phenotype and functioning are quite typical. As is known, the duplication can pass from parents to children. The 16p13.11 micro duplication has been implicated in several neurodevelopmental and behavioral disorders and is characterized by variable expressivity and incomplete penetrance.<\/jats:p>","DOI":"10.2478\/bjmg-2021-0010","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T22:08:06Z","timestamp":1627423686000},"page":"89-94","source":"Crossref","is-referenced-by-count":4,"title":["Duplication of chromosome 16p13.11-p12.3 with different expressions in the same family"],"prefix":"10.2478","volume":"24","author":[{"given":"N","family":"Pop-Jordanova","sequence":"first","affiliation":[{"name":"Department of Medicine, Research Centre for Genetic Engineering and Biotechnology \u201cGeorgi D. Efremov,\u201d Macedonian Academy of Sciences and Arts , Skopje , Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Zorcec","sequence":"additional","affiliation":[{"name":"Department of Psychophysiology, University Children\u2019s Hospital, Faculty of Medicine, University \u201cCyril and Methodius,\u201d Skopje , Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Sukarova-Angelovska","sequence":"additional","affiliation":[{"name":"Department of Psychophysiology, University Children\u2019s Hospital, Faculty of Medicine, University \u201cCyril and Methodius,\u201d Skopje , Republic of North Macedonia"},{"name":"Department of Endocronology and Genetics, University Clinic for Children\u2019s Diseases, Medical Faculty, University Sv. Kiril i Metodij , Skopje , Republic of North Macedonia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,7,27]]},"reference":[{"key":"2026042718401429301_j_bjmg-2021-0010_ref_001","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, 5th ed. Arlington, VA, USA: American Psychiatric Association, 2013.","DOI":"10.1176\/appi.books.9780890425596"},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_002","doi-asserted-by":"crossref","unstructured":"Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BWM, Schuurs Hoeijmakers JHM, Meader S, et al. Clinical significance of de novo and inherited copy number variation. Hum Mutat. 2013; 34(12): 16791687.","DOI":"10.1002\/humu.22442"},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_003","doi-asserted-by":"crossref","unstructured":"Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009; 84(2): 148-161.","DOI":"10.1016\/j.ajhg.2008.12.014"},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_004","doi-asserted-by":"crossref","unstructured":"Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, et al. Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR\/MCA while the duplication may be a rare benign variant. J Med Genet. 2009; 46(4): 223-232.","DOI":"10.1136\/jmg.2007.055202"},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_005","doi-asserted-by":"crossref","unstructured":"Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. 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J Clin Pathol. 1978; 31(12): 1152-1155.","DOI":"10.1136\/jcp.31.12.1152"},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_009","unstructured":"Loureiro S, Almeida J, Caf\u00e9 C, Concei\u00e7\u00e3o I, Mouga S, Beleza A, et al. Copy number variations in chromosome 16p13.11-The neurodevelopmental clinical spectrum. Curr Pediatr Res. 2017; 21(1): 116-129."},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_010","doi-asserted-by":"crossref","unstructured":"Liu JYW, Kasperavi\u010di\u016bt\u0117 D, Martinian L, Thom M, Sisodiya SM. Neuropathology of 16p13.11 deletion in epilepsy. PLoS One. 2012; 7(4): e34813.","DOI":"10.1371\/journal.pone.0034813"},{"key":"2026042718401429301_j_bjmg-2021-0010_ref_011","doi-asserted-by":"crossref","unstructured":"Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu H-Y, et al. 16p13.11 duplication is a risk factor for wide spectrum of neuropsychiatric disorders. 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