Dino Cancemi, Maria Urciuoli, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Carmine Spampanato, Marialuisa Ventruto, Valerio Ventruto, Carmine Sica
{"title":"A case of polimalformed fetus with a microdeletion of CTNNA3 gene.","authors":"Dino Cancemi, Maria Urciuoli, Franco Morelli, Maria Concetta Lonardo, Valeria Lonardo, Carmine Spampanato, Marialuisa Ventruto, Valerio Ventruto, Carmine Sica","doi":"10.11138/jpm/2016.10.3.020","DOIUrl":null,"url":null,"abstract":"<p><p>We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene.</p>","PeriodicalId":89592,"journal":{"name":"Journal of prenatal medicine","volume":"10 3-4","pages":"20-22"},"PeriodicalIF":0.0000,"publicationDate":"2016-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505477/pdf/20-22.pdf","citationCount":"2","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of prenatal medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.11138/jpm/2016.10.3.020","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 2
Abstract
We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene.
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