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Fetal genotype was assessed in 72 cases upon the occurrence of five prenatal fetal phenotypic features: cardiac anomalies, hypo\/aplastic thymus, craniofacial malformations, urinary abnormalities, or IUGR; genotype\u2010phenotype correlation was tested to potentially improve prenatal diagnosis of fetal DGS and dup22q11 syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fetal genotypes of deletions or duplications in proximal clusters of LCR22s (A\u2010B) were associated with fetal cardiac anomalies in combination with hypo\/aplastic thymus and craniofacial malformations, suggesting a correlation with deleted <jats:italic>HIRA<\/jats:italic>. TOF associated with aplastic thymus in combination with renal defects indicated a relevant correlation with <jats:italic>TBX1<\/jats:italic> deletion. Deletions in central LCR22s (B\u2010D) with the loss of <jats:italic>CRKL<\/jats:italic> supposed a trend of genotype\u2010phenotype correlation with fetal urinary abnormalities.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Genotype\u2010phenotype correlation might improve prenatal diagnosis of fetal DGS and dup22q11 syndrome. Hence, prenatal screening and counseling is highly enhanced by a combination of fetal molecular genetic analysis, fetal ultrasound, and\/or MRI. The implications of these findings remain to be explored.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5572","type":"journal-article","created":{"date-parts":[[2019,10,24]],"date-time":"2019-10-24T16:50:17Z","timestamp":1571935817000},"page":"1225-1234","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["DiGeorge syndrome chromosome region deletion and duplication: Prenatal genotype\u2010phenotype variability in fetal ultrasound and MRI"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8645-2961","authenticated-orcid":false,"given":"Allessandra","family":"Tramontana","sequence":"first","affiliation":[{"name":"Department of Gynecology and Obstetrics Sozialmedizinisches Zentrum Ost \u2013 Donauspital  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beda","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Department of Gynecology and 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