Triploidy is chromosomal abnormality characterized by the presence of three sets of chromosomes instead of the normal two sets, so the triploid fetus has 69 chromosomes. Within the Department for medical genetics at University Clinical Center of Republic of Srpska, from 2009 to 2016, 5853 prenatal karyotipizations were performed from amniotic fluid. Two cases (0,03%) of tryploid karyotipe were detected during this period. In this report we will present the findings of triploid karyotype 69, XXX in prenatal diagnosis. Origin of those triploid karyotipes was determined using molecular methods at Institute of Forensic Medicine of Republic of Srpska, Banja Luka. One of the detected triploid fetuses originated from twin pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. Using molecular methods, it was determined that one set of chromosomes originated from the mother, and two sets from the father- diandric origin. The other triploid fetus originated from one fetus pregnancy, where the pregnancy was spontaneously aborted two weeks after amniocentesis. The first trimester combined test indicated triploid kariotype with digyny origin. Triploid karyotype was confirmed by prenatal karyotipisation, while molecular analysis confirmed digyny origin of this case of triploidy – two sets of chromosomes originated from mother and one set from father. Since cytogenetic analyses are performed from amniotic cells at 16-18 weeks, in order to reduce waiting period, parents should be informed about karyotypisation and DNA profiling from chorionic villi sample at 11-12 weeks as a faster option to get final results .
Introduction: Numerous human migrations between Bosnia and Herzegovina and Serbia's northern province of Vojvodina have led to the increased mixing of these population's genetic pool, leading to a reduction in genetic differences. The question is whether there are now genetic differences between the mentioned populations. Methods: Short Tandem Repeat (STR) loci D2S1338 and D18S51 were used in this paper to compare the diversity of alleles and genotypes between the populations of Vojvodina and one of the two Bosnia's entities, the Republic of Srpska (RS). Three hundred ninety unrelated persons, 140 persons from the RS and 260 from Vojvodina, were analysed. The PowerPlex ESX16 System commercial kit was used for profiling persons from the territory of the RS and the AmpF/STR Identifiler commercial kit for persons from Vojvodina. The Mann-Whitney U-test was used for statistical analysis. Results: Data analysis concluded a significant deviation in the allele frequency of the D18S51 locus where p=0.021. There was no statistically significant deviation in the D2S1338 locus allele frequency between these two populations. It was also found that there is a statistically significant deviation in the genotype frequencies of these two populations for the analysed genetic markers. Conclusion: This study confirms the existence of a significant deviation of allelic frequency for the D18S51 gene locus and a significant deviation of both gene markers frequency of genotypes.
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