{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:11:46Z","timestamp":1789153906357,"version":"build-2803163510"},"reference-count":60,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,23]],"date-time":"2017-11-23T00:00:00Z","timestamp":1511395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2018,1]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a \u201cSystematic Survey of Balanced Chromosomal Rearrangements in Finns.\u201d In the first family, carriers (\n n<\/jats:italic>\n \u00a0=\u00a06) manifest with learning problems in childhood, and later with unexplained neurological symptoms (chronic headache, balance problems, tremor, fatigue) and cerebral infarctions in their 50s. In the second family, two carriers suffer from tetralogy of Fallot, one from transient ischemic attack and one from migraine. The translocation cosegregates with these vascular phenotypes and neurological symptoms.\n <\/jats:p>\n <\/jats:sec>\n \n Methods and Results<\/jats:title>\n \n We narrowed down the breakpoint regions using mate pair sequencing. We observed conserved haplotypes around the breakpoints, pointing out that this translocation has arisen only once. The chromosome 1 breakpoint truncates a\n \n CHRM<\/jats:styled-content>\n 3\n <\/jats:italic>\n processed transcript, and is flanked by the 5\u2032 end of\n \n CHRM<\/jats:styled-content>\n 3\n <\/jats:italic>\n and the 3\u2032 end of\n \n RYR<\/jats:styled-content>\n 2\n <\/jats:italic>\n .\n \n TRHDE<\/jats:styled-content>\n <\/jats:italic>\n ,\n \n KCNC<\/jats:styled-content>\n 2\n <\/jats:italic>\n , and\n \n ATXN<\/jats:styled-content>\n 7L3B\n <\/jats:italic>\n flank the chromosome 12 breakpoint.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This study demonstrates a balanced t(1;12)(q43;q21.1) with conserved haplotypes on the derived chromosomes. The translocation seems to result in vascular phenotype, with or without neurological symptoms, in at least two families. We suggest that the translocation influences the positional expression of\n \n CHRM<\/jats:styled-content>\n 3\n <\/jats:italic>\n ,\n \n RYR<\/jats:styled-content>\n 2\n <\/jats:italic>\n ,\n \n TRHDE<\/jats:styled-content>\n <\/jats:italic>\n ,\n \n KCNC<\/jats:styled-content>\n 2\n <\/jats:italic>\n , and\/or\n \n ATXN<\/jats:styled-content>\n 7L3B\n <\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.346","type":"journal-article","created":{"date-parts":[[2017,11,23]],"date-time":"2017-11-23T02:52:45Z","timestamp":1511405565000},"page":"56-68","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6430-6410","authenticated-orcid":false,"given":"Tiia 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