{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T03:10:55Z","timestamp":1783653055188,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n Chromosomal microarray analysis (CMA), methylation\u2010specific multiplex ligation\u2010dependent probe amplification (MS\u2010MLPA), and trio\u2010whole exome sequencing (WES) were performed in a female fetus with omphalocele. A de novo heterozygous 300\u2010kb deletion in the Xq13.1 region, which includes the\n MED12<\/jats:italic>\n gene, was identified. Follow\u2010up ultrasound at 18\n +4<\/jats:sup>\n \u00a0weeks of gestation revealed features consistent with Hardikar syndrome (HS), including a right\u2010sided cleft lip and palate, an omphalocele with intestines, a diaphragmatic hernia with the stomach in the left thoracic cavity, and displacement of the heart to the right. Phenotypic evaluation confirmed the presence of a cleft lip and palate as well as umbilical hernia. These findings suggest that a heterozygous deletion of the entire\n MED12<\/jats:italic>\n gene may contribute to the HS phenotype. This case extends the possible damaging effects of haploinsufficiency of the\n MED12<\/jats:italic>\n gene in the pathogenesis of HS.\n <\/jats:p>","DOI":"10.1002\/pd.6733","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T22:49:09Z","timestamp":1734648549000},"page":"223-226","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Whole\n MED12<\/i>\n Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome"],"prefix":"10.1002","volume":"45","author":[{"given":"Liping","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnosis Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity\u00a0and Child Institute of Shantou University Medical College) Shenzhen 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Medical Ultrasonics Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College) Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongping","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Medical Ultrasonics Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College) Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2536-9176","authenticated-orcid":false,"given":"Weiqiang","family":"Liu","sequence":"additional","affiliation":[{"name":"Central Lab (Genetics Lab) Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of\u00a0Shantou University Medical College) Shenzhen China"},{"name":"Genetic Department Longgang District Key Laboratory for Birth Defects Prevention Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,19]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63044"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000256709.08271.4d"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875\u2010020\u201000745\u20102"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001031\u20107"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6594"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63868"}],"container-title":["Prenatal 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