Kazandı, M Ege Üniversitesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Turan, V Ege Üniversitesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Zeybek, B Ege Üniversitesi - Kadın Hastalıkları ve Doğum Anabilim Dalı, Turkey , Argon, A Ege Üniversitesi - Patoloji Anabilim Dalı, Turkey

Emanuel Syndrome

14650

A 35 year old pregnant woman who had previous had a child by cesarean section and a previous abortion, was referred to our clinic because of an increased risk in a second trimester screening at 20 weeks. When we investigated with detailed ultrasonograpy, increased nuchal fold thickness, diaphragma hernia, complete endocardial cushion defect and truncus arteriosus were found. Amniosentesis was performed and the pregnancy was terminated medically with usage of vaginal and oral misoprostol. After chromosomal analysis, 47,.., +der(22) t (11,22) (q25;q13) was assigned. Although paternal chromosomes analysis was normal; maternal chromosomes corresponded with 46,XX t(11,22) (q25;q13), which is a carrier for this syndrome.

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Emanuel Syndrome , congenital malformations

Ege Journal Of Medicine

211