Prenatal diagnosis was offered to 6800 high risk pregnancies and 2883 cases accepted invasive diagnosis. In this study, we reported retrospectively our prenatal diagnosis results between January 2012 and May 2014 in Tepecik Training and Research Hospital Genetic Diagnostic Center.
It is based on the investigation of polymorphic short tandem repeats (STRs) and is preferred widely for prenatal rapid aneuploidy detection. QFPCR is being used for more than 20 years. Tepecik Training and Research Hospital, Izmir, Turkey Genetic counseling was given to the family. Interesting feature of the case that father had not dysmorphic features also is a fertile man. Conclusion: A few cases have been reported interstitial deletion of AmelY loci have oligozoospemic clinique associated with male infertility but we had described lack of AmelY locus both fetus and the father. Results: AmelX of the mother was normal level whether fetüs and father have not any size of AmelY loci but had SRY sex-determining region Y marker. When detecting the lock of AmelY locus in cvs we analyzed the parents immediately for amel fragments. In the case, fourteen weeks choryonic villus samples (cvs) with indications of omphalocele and anancefalia were refered to our clinic for prenatal diagnosis. Also, AmelX and AmelY sequences are these markers. The technique, is based on the length variotions of short tandem repeat (str) in chromosomes. Meterials and Methods: Quantitative fluorescent polymerase chain reaction (qf pcr) combination with conventional cytogenetic analysis has been used routinely in prenatal diagnosis. It’s fact that Y chromosome abnormalities are primarily considired for male infertility or subfertility. It is lead to be useful for gender identification detecting of amelogenin homologus. AmelX is present on the Xp22.1-p22.3 and AmelY is present on the Yp11.2, differ by a 6 bp deletion in the third intron of AmelX is not in AmelY. The gene is located each of the sex chromosomes. Introduction: Amelogenin gene is responsable for amelogenesis and the development of enamel of tooth.
Yıldırım 1ġDepartment of Medical Genetics, Meram Medical Faculty,Necmettin Erbakan University, KONYA, Turkey, KONYA, Turkey, 2Department of Gynecology, Meram Medical Faculty,Necmettin Erbakan University, KONYA, Turkey, KONYA, Turkey However, molecular karyotyping is gaining importance in order to evaluate unbalanced chromosomal anomalies, to predict fetal prognosis and to give appropriate genetic counseling. In unstable chromosomal rearrangements, fetal USG scans are not sufficient to detect fetal anomalies. Conclusion: Our study emphasizes the importance of using additional molecular cytogenetic methods in clinical follow-up of complex rearrangements in the prenatal cases. 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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