{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T11:08:16Z","timestamp":1780916896786,"version":"3.54.1"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T00:00:00Z","timestamp":1582588800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T00:00:00Z","timestamp":1582588800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100010114","name":"Yrj\u00f6 Jahnssonin S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010114","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004037","name":"Juho Vainion S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004037","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      A pair of dizygotic twins discordantly affected by heavy prenatal alcohol exposure (PAE) was reported previously by Riikonen, suggesting the role of genetic risk or protective factors in the etiology of alcohol\u2010induced developmental disorders. Now, we have re\u2010examined these 25\u2010year\u2010old twins and explored genetic origin of the phenotypic discordancy reminiscent with fetal alcohol syndrome (FAS). Furthermore, we explored alterations in DNA methylation profile of imprinting control region at growth\u2010related insulin\u2010like growth factor 2 (\n                      <jats:italic>IGF2<\/jats:italic>\n                      )\n                      <jats:italic>\/H19<\/jats:italic>\n                      locus in twins' white blood cells (WBC), which have been associated earlier with alcohol\u2010induced genotype\u2010specific changes in placental tissue.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Microarray\u2010based comparative genomic hybridization (aCGH) was used to detect potential submicroscopic chromosomal abnormalities, and developmental as well as phenotypic information about twins were collected. Traditional bisulfite sequencing was used for DNA methylation analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Microarray\u2010based comparative genomic hybridization revealed a microdeletion 18q12.3\u2010q21.1. in affected twin, residing in a known 18q deletion syndrome region. This syndrome has been associated with growth restriction, developmental delay or intellectual deficiency, and abnormal facial features in previous studies, and thus likely explains the phenotypic discordancy between the twins. We did not observe association between WBCs\u2019 DNA methylation profile and PAE, but interestingly, a trend of decreased DNA methylation at the imprinting control region was seen in the twin with prenatal growth retardation at birth.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The microdeletion emphasizes the importance of adequate chromosomal testing in examining the etiology of complex alcohol\u2010induced developmental disorders. Furthermore, the genotype\u2010specific decreased DNA methylation at the\n                      <jats:italic>IGF2\/H19<\/jats:italic>\n                      locus cannot be considered as a biological mark for PAE in adult WBCs.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1192","type":"journal-article","created":{"date-parts":[[2020,2,25]],"date-time":"2020-02-25T06:35:58Z","timestamp":1582612558000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["18q12.3\u2010q21.1 microdeletion detected in the prenatally alcohol\u2010exposed dizygotic twin with discordant fetal alcohol syndrome phenotype"],"prefix":"10.1002","volume":"8","author":[{"given":"Hanna","family":"Kahila","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Helsinki University Hospital and University of Helsinki Helsinki 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