Emanuel Syndrome

Yıl 2010, Cilt: 49 Sayı: 3, 209 - 211, 01.09.2010

Kazandı M Turan V Zeybek B Rgon A

Öz

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.

Anahtar Kelimeler

Emanuel Syndrome, congenital malformations

Emanuel Sendromu

Öz

35 yaşında daha önceden 1 aylık spontan abortusu bulunan ve miad sezaryen doğum ile 3300gr sağlıklı çocuğu olan hastada şimdiki gebeliğinde yapılan 2. düzey taramasında ; nukal foldda kalınlaşma, diafragma hernisi, komplet endokardial yastık defekti ve trunkus arteriosis saptanması üzerine amniosentez yapıldı ve gebelik sonlandırılmasına gidildi. Misoprostol 200mg 6x1 uygulandı. Yapılan genetik incelemede 47, .. , +der(22) t(11,22) (q25;q13) saptandı. Aileye yapılan kromozom analizinde annede 46,XX t(11,22) (q25;q13) bulunurken baba normal karyotipe sahipti.

Anahtar Kelimeler

Emanuel sendromu, konjenital anomali