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Most affected individuals have point mutations or small insertions or deletions within the <jats:italic>PTCH1<\/jats:italic> gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring <jats:italic>FANCC<\/jats:italic> and\/or <jats:italic>ERCC6L2<\/jats:italic> genes. We report a 16\u2010year\u2010old patient with a deletion of approximately 400,000 bases which removes only <jats:italic>PTCH1<\/jats:italic> and some non\u2010coding RNA genes but leaves <jats:italic>FANCC<\/jats:italic> and <jats:italic>ERCC6L2<\/jats:italic> intact. In spite of the small amount of DNA for which he is haploid, his phenotype is more extreme than many individuals with longer deletions in the region. This includes early presentation with a large number of basal cell nevi and other skin lesions, multiple jaw keratocysts, and macrosomia. We found that the deletion was in the paternal chromosome, in common with other macrosomia cases. Using public databases, we have examined possible interactions between sequences within and outside the deletion and speculate that a regulatory relationship exists with flanking genes, which is unbalanced by the deletion, resulting in abnormal activation or repression of the target genes and hence the severity of the phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.62224","type":"journal-article","created":{"date-parts":[[2021,5,8]],"date-time":"2021-05-08T21:41:37Z","timestamp":1620510097000},"page":"2070-2083","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype"],"prefix":"10.1002","volume":"185","author":[{"given":"Adam D.","family":"Ewing","sequence":"first","affiliation":[{"name":"Mater Research Institute\u2010University of Queensland, Translational Research Institute  Woolloongabba Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth W.","family":"Cheetham","sequence":"additional","affiliation":[{"name":"Mater Research Institute\u2010University of Queensland, Translational Research Institute  Woolloongabba Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"McGill","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology Royal Brisbane and Women's Hospital  Herston Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Sharkey","sequence":"additional","affiliation":[{"name":"Paddington Dermatology Specialist Clinic  Paddington Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick","family":"Walker","sequence":"additional","affiliation":[{"name":"QLD Youth Cancer Service Queensland Children's Hospital  South Brisbane Queensland Australia"},{"name":"School of Clinical Medicine The University of Queensland  Herston Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"West","sequence":"additional","affiliation":[{"name":"Northside Clinical School, Prince Charles Hospital The University of Queensland  Chermside Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm J.","family":"West","sequence":"additional","affiliation":[{"name":"Northside Clinical School, Prince Charles Hospital The University of Queensland  Chermside Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7084-4386","authenticated-orcid":false,"given":"Kim M.","family":"Summers","sequence":"additional","affiliation":[{"name":"Mater Research Institute\u2010University of Queensland, Translational Research Institute  Woolloongabba Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-019-0041-2"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12787"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.987"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.06.001"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30422"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25040"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncponc0608"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0430-5"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000001322"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1092"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.5694\/mja11.11331"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1233"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11247"},{"key":"e_1_2_10_15_1","volume-title":"GeneReviews","author":"Evans D. 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