{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:43Z","timestamp":1756339423060,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","issue":"8","funder":[{"name":"Indonesia Ministry of Research, Technology and Higher Education PhD grant: Program Pendidikan Magister menuju Doktor untuk Sarjana Unggul"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,7,25]]},"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:p>We report two sisters with developmental delay and dysmorphic features, as well as a history of seizures. Both sisters have short stature, microcephaly and shared facial dysmorphisms. We detected an 18.1\u2009Mb interstitial gain in 1q31.3q41 and a 140\u2009kb interstitial loss in 7p11.2 in both siblings by using array analysis in the older sister and copy number variation analysis in whole exome sequencing data in the younger sister. We further examined parental chromosomes and found an insertional translocation in the unaffected father, having a 46,XY,ins(7;1)(p11.2;q31.3q41) karyotype. A 1.8\u2009Mb loss at the rearranged 1q segment was subsequently detected on additional array analysis in the father, as well as the 140\u2009kb loss in 7p11.2. We describe the clinical consequences of the 18.1\u2009Mb duplication of the long arm of chromosome 1 due to an unbalanced paternal insertional translocation and compare these with the clinical phenotypes of patients with an overlapping 1q duplication.<\/jats:p>","DOI":"10.1136\/bcr-2019-230941","type":"journal-article","created":{"date-parts":[[2019,8,31]],"date-time":"2019-08-31T07:39:05Z","timestamp":1567237145000},"page":"e230941","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Duplication of 1q31.3q41 in two affected siblings due to paternal insertional translocation"],"prefix":"10.1136","volume":"12","author":[{"given":"Nydia Rena Benita","family":"Sihombing","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, 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