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Rare genetic variants can cause monogenic intestinal inflammation. The impact of chromosomal aberrations and large structural abnormalities on IBD susceptibility is not clear. We aimed to comprehensively characterise the phenotype and prevalence of patients with IBD who possess rare numerical and structural chromosomal abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a systematic literature search of databases PubMed and Embase; and analysed gnomAD, Clinvar, the 100 000 Genomes Project, and DECIPHER databases. Further, we analysed international paediatric IBD cohorts to investigate the role of IL2RA duplications in IBD susceptibility.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A meta-analysis suggests that monosomy X [Turner syndrome] is associated with increased expressivity of IBD that exceeds the population baseline (1.86%, 95% confidence interval [CI] 1.48 to 2.34%) and causes a younger age of IBD onset. There is little evidence that Klinefelter syndrome, Trisomy 21, Trisomy 18, mosaic Trisomy 9 and 16, or partial trisomies contribute to IBD susceptibility. Copy number analysis studies suggest inconsistent results. Monoallelic loss of X-linked or haploinsufficient genes is associated with IBD by hemizygous or heterozygous deletions, respectively. However, haploinsufficient gene deletions are detected in healthy reference populations, suggesting that the expressivity of IBD might be overestimated. One duplication that has previously been identified as potentially contributing to IBD risk involves the IL2RA\/IL15R loci. Here we provide additional evidence that a microduplication of this locus may predispose to very-early-onset IBD by identifying a second case in a distinct kindred. However, the penetrance of intestinal inflammation in this genetic aberration is low [&amp;lt;2.6%].<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Turner syndrome is associated with increased susceptibility to intestinal inflammation. Duplication of the IL2RA\/IL15R loci may contribute to disease risk.<\/jats:p><\/jats:sec>","DOI":"10.1093\/ecco-jcc\/jjac103","type":"journal-article","created":{"date-parts":[[2022,7,30]],"date-time":"2022-07-30T21:59:11Z","timestamp":1659218351000},"page":"49-60","source":"Crossref","is-referenced-by-count":6,"title":["Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease"],"prefix":"10.1093","volume":"17","author":[{"given":"Paulina","family":"Dirvanskyte","sequence":"first","affiliation":[{"name":"Translational Gastroenterology Unit and Biomedical Research Centre, Nuffield Department of Clinical Medicine, University of Oxford , Oxford , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhaskar","family":"Gurram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UT Southwestern Medical Center , Dallas TX , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0240-3244","authenticated-orcid":false,"given":"Chrissy","family":"Bolton","sequence":"additional","affiliation":[{"name":"Institute of Child Health, University College London , London , UK"},{"name":"Paediatric Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Warner","sequence":"additional","affiliation":[{"name":"SickKids Inflammatory Bowel Disease Centre, Hospital for Sick Children , Toronto, ON , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelsey D J","family":"Jones","sequence":"additional","affiliation":[{"name":"Paediatric Gastroenterology Department, Great Ormond Street Hospital for Children NHS Foundation Trust , London , UK"},{"name":"Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Kennedy Institute of Rheumatology, University of Oxford , Oxford , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen R","family":"Griffin","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute , Newcastle upon Tyne , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6797-4000","authenticated-orcid":false,"given":"Jason Y","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pathology and the Eugene McDermott Center for Human Growth and Development. UT Southwestern Medical Center , Dallas, TX , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus-Michael","family":"Keller","sequence":"additional","affiliation":[{"name":"German Clinic for Diagnostics [DKD], Helios Klinik , Wiesbaden , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly C","family":"Gilmour","sequence":"additional","affiliation":[{"name":"Laboratory of Immunology and Cellular Therapy, Great Ormond Street Hospital for Children, NHS Foundation Trust , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Hambleton","sequence":"additional","affiliation":[{"name":"Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute , Newcastle upon Tyne , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9624-3346","authenticated-orcid":false,"given":"Aleixo M","family":"Muise","sequence":"additional","affiliation":[{"name":"SickKids Inflammatory Bowel Disease Centre, Hospital for Sick Children , Toronto, ON , Canada"},{"name":"Department of Biochemistry, University of Toronto , Toronto, ON , Canada"},{"name":"Cell Biology Program, Sick Kids Research Institute, Hospital for Sick Children , Toronto, ON , Canada"},{"name":"Department of Pediatrics, University of Toronto , Toronto, ON , Canada"},{"name":"Institute of Medical Science, University of Toronto , Toronto, ON , Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Wysocki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, and Department of Internal Medicine, University of Texas Southwestern Medical Center , Dallas, TX , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm H","family":"Uhlig","sequence":"additional","affiliation":[{"name":"Translational Gastroenterology Unit and Biomedical Research 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