{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:29:39Z","timestamp":1777937379903,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2017,2,8]],"date-time":"2017-02-08T00:00:00Z","timestamp":1486512000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:p>Meckel-Gruber syndrome (MKS) is a rare lethal autosomal recessive disorder with typical anomalies including encephalocele, multicystic renal dysplasia, congenital liver fibrosis, and polydactyly. MKS is caused by mutations of genes localized on different chromosomes. Karyotypes of published Meckel\u2013Gruber syndrome cases are without any aberrations. We present a male fetus with meningoencephalocele, multicystic renal dysplasia, congenital liver fibrosis, and other anomalies. Standard cytogenetic examination of cultured fetal skin and muscle fibroblasts showed mosaic trisomy 17. Homozygous deletion in CC2D2A gene was found by Sanger sequencing. This is to our knowledge the first case of genetically confirmed Meckel\u2013Gruber syndrome with incidental cofinding of mosaic trisomy 17. Abnormal karyotype does not exclude diagnosis of MKS with risk of recurrence 25% in next pregnancy. In the case of anomalies typical for Meckel\u2013Gruber syndrome, genetic analysis is indicated.<\/jats:p>","DOI":"10.1177\/1093526616689184","type":"journal-article","created":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T11:34:51Z","timestamp":1502883291000},"page":"449-454","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["The First Reported Case of Meckel\u2013Gruber Syndrome Associated With Abnormal Karyotype Mosaic Trisomy 17"],"prefix":"10.1177","volume":"20","author":[{"given":"Zuzana","family":"Cierna","sequence":"first","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic"},{"name":"Medirex group academy, n.o., Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavol","family":"Janega","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic"},{"name":"Medirex group academy, n.o., Bratislava, Slovak Republic"},{"name":"Institute of Normal and Pathological Physiology, Slovak Academy of Sciences, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frantisek","family":"Grochal","sequence":"additional","affiliation":[{"name":"Femicare, s.r.o., Center of prenatal ultrasonographic diagnostics, Martin, Slovak republic"},{"name":"UVN SNP Ruzomberok, Gynecological and Obstetrical Department, Faculty of Health Care, Catholic University in Ruzomberok, Ruzomberok, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vladimir","family":"Ferianec","sequence":"additional","affiliation":[{"name":"2nd Department of Gynaecology and Obstetrics, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Braxatorisova","sequence":"additional","affiliation":[{"name":"Institute of Medical biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Strieskova","sequence":"additional","affiliation":[{"name":"Geneton, s.r.o., Bratislava, Slovak Republic"},{"name":"Faculty of Natural Sciences, Comenius University, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Malova","sequence":"additional","affiliation":[{"name":"Institute of Medical biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Jungova","sequence":"additional","affiliation":[{"name":"Institute of Medical biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas","family":"Szemes","sequence":"additional","affiliation":[{"name":"Geneton, s.r.o., Bratislava, Slovak Republic"},{"name":"Faculty of Natural Sciences, Comenius University, Bratislava, Slovak Republic"},{"name":"Comenius University Science Park, Comenius University, Bratislava, Slovak Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,2,8]]},"reference":[{"key":"bibr1-1093526616689184","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a02882"},{"key":"bibr2-1093526616689184","unstructured":"McKusick VA, Lurie IW, Wright MJ, Kniffin CL, Tiller GE, Hamosh A. Meckel syndrome, type 1; MKS1, MIM Number: #249000. Online Mendelian Inheritance in Man, OMIM\u00ae. (Date last edited 03.10.2015). http:\/\/www.omim.org. 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