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The genotypes of the parents of the patient were verified by copy number variation analysis and Sanger sequencing to determine the source of variations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The karyotype of the patient was 46, XX. A 10.44\u00a0Mb deletion (chr18:67562936-78005270del) at 18q22.2q23 was found by NGS. We identified 2 <jats:italic>HSPG2<\/jats:italic> mutations (chr1: 22206699, c.2244C &gt; A, exon 17, p.H748Q; chr1: 22157321\u201322157321, c.11671\u2009+\u2009154insA, intron). One mutation was inherited from the father, and the other was inherited from the mother.\n<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>This is the first 18q deletion syndrome case accompanied by DDH. Most phenotypes of this patient, such as developmental delays and cleft palate, may be related to the 18q22.2q23 deletion, but no variants in genes related to DDH were found in this deletion region. DDH may be related to mutations of <jats:italic>HSPG2.<\/jats:italic><\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01345-2","type":"journal-article","created":{"date-parts":[[2022,9,19]],"date-time":"2022-09-19T09:03:28Z","timestamp":1663578208000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip"],"prefix":"10.1186","volume":"15","author":[{"given":"Shufeng","family":"Yu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caixia","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ke","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefei","family":"Leng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhihong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,9,19]]},"reference":[{"issue":"3","key":"1345_CR1","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1002\/ajmg.a.34221","volume":"158A","author":"E Margarit","year":"2012","unstructured":"Margarit E, Morales C, Rodr\u00edguez-Revenga L, Monn\u00e9 R, Badenas C, Soler A, Clusellas N, Mademont I, S\u00e1nchez A. 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