The findings were correlated with 8p inverted duplication deletion syndrome. The molecular karyotyping revealed a gain in 8p11.22-p23.1 region with a size of 27.2 Mb containing 122 OMIM gene and a loss in 8p23.1-p23.3 region with a size of 6.8 Mb containing 15 OMIM gene. There was no fetal structural anomaly in level II fetal USG and fetal echocardiography. In the subtelomeric FISH study of the fetal sample, there was a subtelomeric deletion in the 8p region. The parental karyotypes had no chromosomal anomaly. The result of the QF-PCR analysis for rapid aneuploidy screening was normal, but add (8p) was determined by conventional karyotyping. Results: Amniocentesis was performed at 16 th weeks of gestation. Materials and Method: A prenatal case was investigated due to high risk for Down syndrome in first trimester biochemichal screening and advanced maternal age (36) by amniocentesis and fetal ultrasonography (USG). Introduction: 8p inverted duplication deletion syndrome is a rare chromosomal anomaly characterized by mild to severe intellectual deficit, severe developmental delay, hypotonia, agenesis of the corpus callosum and minor facial anomalies such as prominent forehead, temporal baldness, anteverted nostrils and eversion of the lower lip. Training and Research Hospital Genetic Diognosis Center, Izmir, Turkey
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