Prenatal diagnosis of partial trisomy 3q with omphalocele in the first trimester of pregnancy / 대한산부인과학회지

Abnormal offsprings from balanced translocation carriers usually inherit only one of the translocated products and are therefore partially trisomic for one chromosome and partially monosomic for another. Partial trisomy 3q usually demonstrates characteristic facial appearance, developmental delay, brain and ocular anomalies, severe growth retardation, congenital heart disease, renal and genitourinary malformations, omphalocele, and skeletal and limb anomalies with a wide range of characteristics and severities. It has been reported in a few individuals in the world and this is the first report of partial trisomy 3q in Korea. We present the case of partial trisomy 3q with omphalocele from maternal balanced translocation, which was prenatally diagnosed by chorionic villi sampling based on abnormal ultrasonographic findings.

Expression of 14-3-3 proteins and Bax in the placenta of preeclampsia / 대한산부인과학회지

OBJECTIVE: Purpose of our study was to examine the expression level of 14-3-3 proteins and Bcl-2 family and to estimate the interaction between 14-3-3 proteins and Bcl-2 family in normal and preeclamptic placenta. METHODS: Placental tissues were sampled from preeclampsia with caesarean delivery (n=5) and normal pregnant women with caesarean delivery (n=5). Western blot and immunoprecipitation related Western blotting were performed on all placental samples. Unpaired Student t-test was used to determine the statistical significance. RESULTS: Western blot analysis revealed that the expression of Bax and 14-3-3 zeta was significantly greater in the preeclamptic placenta than in the normal placenta. Immunoprecipitation related Western blotting revealed that the interaction between 14-3-3 zeta and Bax was significantly less in the preeclamptic placenta than in the normal placenta. CONCLUSION: Increased expression of Bax and reduced interaction (between) 14-3-3 zeta and Bax in preeclamptic placenta might influence pathogenesis or sequelae of preeclampsia. Further study is needed to identify the trigger that induces dissociation of Bax from 14-3-3 proteins.