AbstractObjectivesEmanuel syndrome is a rare inherited syndrome, a correct in utero diagnosis allows effective management for ongoing and future pregnancies.Case presentationHere, we report a case of a complete non-mosaic trisomy 22, with several prenatal sonographic findings, that was diagnosed in utero at 15 weeks’ gestation and then it was confirmed with chromosomal analysis and postmortem examination.ConclusionsEvery anatomical difference should always be further investigated in order to achieve the correct diagnosis.
102 Emanuel syndrome – case report of a rare unbalanced translocation syndrome