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The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was rarely reported in clinic.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Three pregnant women presenting diverse indications for prenatal diagnosis accepted amniocentesis: increased nuchal translucency and fetal pyelic separation (case 2) and high risk of maternal serum screening for Down syndrome (case 1 and case 3). Case 1 and case 2 shared similar duplicated locus in the region of 19q13.42, encompassing part <jats:italic>NLRP12<\/jats:italic> gene. The latter inherited the chromosomal duplication from the mother with normal phenotypes. Case 3 carried a 1.445\u00a0Mb duplication in the 19q13.42q13.43 region. It was proposed that evolutionary duplication of <jats:italic>NLRP12<\/jats:italic> gene could have a causative role in autoinflammatory diseases development. The genotype\u2013phenotype correlation depends mainly on the duplicated size and functional genes involved, which is still yet to be determined. All pregnant women chose to continue the pregnancy and delivered healthy children with no apparent abnormalities.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The 19q13.42 microduplications in our study were the smallest fragments compared to previous literature. Our findings enriched the prenatal phenotypes for this chromosomal microscopic imbalance. It was proposed that long term follow up analysis should be guaranteed till adulthood to determine whether there will be other emerging clinical symptoms and developmental-behavioral disorders for such carriers.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-020-00527-w","type":"journal-article","created":{"date-parts":[[2021,1,15]],"date-time":"2021-01-15T12:06:10Z","timestamp":1610712370000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review"],"prefix":"10.1186","volume":"14","author":[{"given":"Xinyue","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fagui","family":"Yue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingyang","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuting","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leilei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3386-7765","authenticated-orcid":false,"given":"Ruizhi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,15]]},"reference":[{"issue":"1","key":"527_CR1","first-page":"17","volume":"19","author":"M Lange","year":"1976","unstructured":"Lange M, Alfi OS. 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The patients provided written informed consent for participating in this study.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consents were obtained from couples for publication of this manuscript.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"5"}}