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17q12 deletion syndrome
Relevant markers:
Echogenic kidney/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaCongenital diaphragmatic hernia (CDH)PolyhydramniosPersistent left superior vena cava (PLSVC)Multicystic dysplastic kidney/sIntestinal dilatationOligohydramniosParents markers:Cystic lung massIntrauterine growth retardation (IUGR/SGA/FGR)Renal agenesisPyelectasis/hydronephrosis
Involved genes:
(gene — definition — chromosome)17q12 Inheritance mode: AD Other online databases: OMIM References: 2011 Fetal Diagn Ther Case Report Read on PubMed 2015 Prenat Diagn 2 Case report and review of literature Read on PubMed Login for more details.