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However, 17p13.3 CNVs were rarely reported in fetuses. This study aims to investigate the clinical significance of 17p13.3 CNVs with varied sizes and gene content in prenatal and postnatal samples.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Eight cases with 17p13.3 CNVs out of 8806 samples that had been subjected to single nucleotide polymorphism array analysis were retrospectively analyzed, along with karyotyping, clinical features, and follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Eight cases with 17p13.3 CNVs consisted of five fetuses, one aborted embryo and two probands manifested severe congenital defects. The indications of prenatal testing varied considerably for the five fetuses, including ultrasound abnormalities (n\u2009=\u20093), segmental deletions indicated by non-invasive prenatal testing (n\u2009=\u20091), and intellectual disability in the mother of one fetus (n\u2009=\u20091). Of them, two and six harbored copy number gains and losses involving 17p13.3, respectively. The size of the detected 17p13.3 CNVs ranged from 576 kb\u00a0to 5.7\u00a0Mb. Case 1 was diagnosed with 17p13.3 duplication syndrome, and cases 4, 6, and 7 with Miller\u2013Dieker syndrome (MDS). Microdeletions of the 17p13.3 region in two cases (cases 5 and 8) involving <jats:italic>YWHAE<\/jats:italic> and <jats:italic>CRK<\/jats:italic>, sparing <jats:italic>PAFAH1B1<\/jats:italic>, were classified as pathogenic. Case 2 harbored a 576\u00a0kb microduplication, encompassing <jats:italic>YWHAE<\/jats:italic> and <jats:italic>CRK<\/jats:italic> but not <jats:italic>PAFAH1B1<\/jats:italic>, which was of maternal origin and considered a variant of uncertain significance. Case 3 carried one 74.2\u00a0Mb mosaic duplication of approximately 3.5 on chromosome 17p13.2q25.3, and two deletions at 17p13.3p13.2 and 17q25.3. The karyotype of case 3 was 46,XY,r(17)(p13q25). For five fetuses, only case 2 continued gestation and showed normal development at the age of 15\u00a0months; the others were subjected to termination of pregnancy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The clinical findings of 17p13.3 microdeletions or microduplications varied among subjects, and 17p13.3 CNVs often differ in size and gene content. Microdeletions or microduplications containing the typical MDS region, as well as the microdeletions involving <jats:italic>YWHAE<\/jats:italic> and <jats:italic>CRK<\/jats:italic>, could be classified as pathogenic. The clinical significance of small duplications including <jats:italic>YWHAE<\/jats:italic> and <jats:italic>CRK<\/jats:italic> but not <jats:italic>PAFAH1B1<\/jats:italic> remains uncertain, for which parental testing and clinical heterogeneity should be considered in genetic counseling.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-022-01423-5","type":"journal-article","created":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T16:03:33Z","timestamp":1671638613000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience"],"prefix":"10.1186","volume":"15","author":[{"given":"Bin","family":"Liang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donghong","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wantong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingji","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Na","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hailong","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangpu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,12,21]]},"reference":[{"issue":"4","key":"1423_CR1","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1086\/374320","volume":"72","author":"C Cardoso","year":"2003","unstructured":"Cardoso C, Leventer RJ, Ward HL, et al. 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The present study was approved by the Protection of Human Ethics Committee of Fujian Provincial Maternity and Children\u2019s Hospital (No. 2020KY113). Written informed consent was obtained from individual or guardian participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All participants provided informed consent and they agreed to publish their clinical data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"268"}}