{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:09:36Z","timestamp":1778641776167,"version":"3.51.4"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T00:00:00Z","timestamp":1565136000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004156","name":"Mahidol University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004156","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Since the establishment of chromosomal microarrays in clinical practice, many new microdeletion\/microduplication syndromes have been identified, including 18q11.2 microdeletion. Chromosome 18q deletion syndrome is commonly classified into distal deletion and a much rarer proximal interstitial deletion spanning the 18q11.2\u2010q21.1 region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report two new patients and review 27 additional cases in DECIPHER\/ClinGen databases and four cases from the literature, with more proximal 18q deletions involving 18q11\u2010q12 (band 1 only; 17.2\u201343.5\u00a0Mb position) deletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Common presentations of 18q11\u2010q12 deletions include developmental delay\/intellectual disability (DD\/ID) (82%); speech delay\/autism\/attention deficit and hyperactivity\/other behavioral problems (30%); conotruncal heart defects (15%); and subtle\/non\u2010specific facial dysmorphism. The deletion in four out of five cases with cardiac defect was distal to <jats:italic>GATA6<\/jats:italic>, suggesting an alternative mechanism other than haploinsufficiency of <jats:italic>GATA6<\/jats:italic> as an underlying cause of cardiac malformations. Precocious puberty with advanced skeletal age was first observed in one patient, suggesting a unique and expanded phenotype of proximal 18q deletion. When comparing genotype\u2013phenotype correlations from the present study with previous reports, the critical regions for selected phenotypes of 18q11\u2010q12 deletion syndrome could be narrowed down as follows: 38.8\u201343.5\u00a0Mb for moderate to severe DD\/ID, 19.6\u201324.4\u00a0Mb and 26.9\u201328.6\u00a0Mb for conotruncal heart defect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The detailed clinical delineation of the proximal 18q deletions identified in this study should contribute to better understanding of the genotype\u2013phenotype correlations and better long\u2010term care of patients with this rare syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.896","type":"journal-article","created":{"date-parts":[[2019,8,7]],"date-time":"2019-08-07T13:03:53Z","timestamp":1565183033000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical delineation of 18q11\u2010q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9488-4470","authenticated-orcid":false,"given":"Kitiwan","family":"Rojnueangnit","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Thammasat University Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chariyawan","family":"Charalsawadi","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, Faculty of Medicine Prince of Songkla University Hat Yai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weerin","family":"Thammachote","sequence":"additional","affiliation":[{"name":"Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital Mahidol University Bangkok 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