Background: Balanced TRANSLOCATION and azoospermia as two main reasons for recurrent pregnancy loss are known to be the leading causes of infertility across the world. Balanced TRANSLOCATIONs in azoospermic males are very rare and extensive studies need to be performed to elucidate the TRANSLOCATION status of the affected individuals. Case Presentaion: The cytogenetic characterization of a 28 year old male and his female partner is reported in this study. The male partner was diagnosed with non-obstructive azoospermia (NOA) and the couple was unable to conceive. Cytogenetic analysis by karyotyping through Giemsa-trypsin-giemsa banding technique (GTG) showed a novel balanced TRANSLOCATION, 46, XY, t(19; 22)(19q13. 4; 22q11. 2), 13ps+ in the male and the female karyotype was found to be 46, XX. Multicolor fluorescence in situ hybridization (mFISH) analysis on paternal CHROMOSOMAL preparations con-firmed both the region and origin of balanced TRANSLOCATION. The status of Y chromo-some microdeletion (YMD) was analyzed and no notable microdeletion was ob-served. Furthermore, protein-protein interaction (PPI) network analysis was per-formed for breakpoint regions to explore the possible functional genetic associations. Conclusion: The azoospermic condition of the male patient along with novel bal-anced CHROMOSOMAL TRANSLOCATION was responsible for infertility irrespective of its YMD status. Therefore, cytogenetic screening of azoospermic patients should be performed in addition to routine semen analysis to rule out or to confirm presence of any numerical or structural anomaly in the patient.

Triploidy is a lethal CHROMOSOMAL abnormality. Fetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected CHROMOSOMAL TRANSLOCATION. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth retardation at 21-22 weeks of gestation and in present pregnancy, the quadruple marker screen test had suggested a high risk for Trisomy 18 with the risk >1: 50. The study was performed on the amniotic fluid and peripheral blood samples received at the clinical cytogenetics department. The interphase FISH and conventional karyotype methods were followed. The prenatal diagnosis using an amniotic fluid sample found a triploid fetus with unexpected balanced CHROMOSOMAL TRANSLOCATION: 69, XXX, t(2, 9)(q11. 2, p22)x2. Later the origin of TRANSLOCATION was confirmed by parental CHROMOSOMAL study. Cytogenetic analysis showed the presence of TRANSLOCATION involving chromosome 2 and 9 in the mother which confirms the maternal origin of TRANSLOCATION in fetal triploidy. Prenatal diagnosis of fetal triploidy with balanced TRANSLOCATION of maternal origin is a rare finding. In present study, the triploidy arises from the failure to expel the second polar body. It is important to perform prenatal fetal imaging with ultrasound at 18-22 weeks to identify any fetal anomalies or intrauterine growth retardation which is associated with triploidy.

Multiple myeloma (MM), is the second most common blood cancer after non-Hodgkin's lymphoma. Genetic changes, structural and numerical chromosome anomalies, are involved in pathogenesis of MM, and are among the most important prognostic factors of disease-associated patient survival. MicroRNAs (miRNAs) are small 19-22 nucleotide single-stranded RNAs involved in important cellular processes. Cytogenetic changes in plasma cells alter miRNA expression and function. MiRNAs act as tumor suppressors and oncogenes by affecting intracellular signaling pathways. MiRNA expression is associated with a specific genetic change and may assist with diagnosis and disease prognosis. This study aims to evaluate recent findings in MM-associated cytogenetic changes and their relationship with changes in the expression of miRNAs. We have determined that MM-associated cytogenetic changes are related to changes in the expression of miRNAs and CD markers (cluster of differentiation) are associated with disease survival. Information about these changes can be used for therapeutic purposes and disease prognosis.

Background: CHROMOSOMAL breakpoints are the most common cause of hereditary diseases and cancers. Today, many standard clinical methods such as cytogenetic and PCR based techniques are used which have limitation regarding detection resolution. Chromosome conformation capture is a method for detecting gene proximity and CHROMOSOMAL rearrangements. Materials and Methods: In this study, SKW3 cell line was used for detecting t(8; 14)(q24; q11) using a 3C-based technique. SKW3 cell line was used for 3C library preparation. For Inverse PCR, two regions were selected in upstream and downstream of the viewpoint locus on chromosome 8-MYC gene based on EcoRI restriction sites. The captured sequence with intra-CHROMOSOMAL interaction between chr8-c-MYC and chr14-TRD was selected for the TRANSLOCATION PCR primer design. Results: The DNA fragment captured in 3C PCR showed a specific TRD sequence translocated downstream of the MYC gene. TRANSLOCATION PCR demonstrated the existence of (8; 14) (q24; q11) MYC /TRD in both library and genomic DNA. Conclusion: This result demonstrated 3C-based method could be used as a useful low-cost easy operating technique in CHROMOSOMAL rearrangements detection. In this study, the integration of whole genome library monitoring and PCR method was used as a high-through put method in CHROMOSOMAL breakpoints detection.

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Background: Most of our current understanding of the biological effects of exposure to ionising radiation is based on conventional cytogenetic techniques, which enable us to determine the relationship between CHROMOSOMAL aberration and dose received by radiation workers. However, conventional techniques have numerous limitations and CHROMOSOMAL aberrations can be easily missed. Since FISH plays an important role in detecting CHROMOSOMAL changes, this method was used to reassess data derived from previous studies employing conventional techniques. Materials and Methods: Two groups of radiographers were the subject of a study on conventional CHROMOSOMAL aberration and fluorescence in situ hybridisation (FISH) for TRANSLOCATION. The first group was chosen following an accidental contamination incident in a nuclear medicine department. The second group was composed of six radiographers working in an X-ray department with a previous record of overdose as recorded by film-badges; these workers had been the subjects of a previous CHROMOSOMAL study. Coded blood samples from 11 radiographers and 11 controls were analysed for CHROMOSOMAL aberration and by FISH for TRANSLOCATION. 200 metaphases from the peripheral blood lymphocytes per subject were analysed to investigate possible frequencies of chromosome and chromatid type aberration and 2000 metaphases per subject were scored in FISH method.Results: There was no significant difference between the radiographers and the control groups in conventional analysis; also there was no significant difference at the 95% level of confidence in FISH analysis. There was no correlation between levels of TRANSLOCATION and total lifetime doses from occupational (according film-badge and TLD) and/or background irradiation. Conclusion: The overall conclusion is that the frequency of CHROMOSOMAL damage in both groups of radiographers did not exceed that of the control group

Background: Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is CHROMOSOMAL abnormalities of the embryo. Robertsonian TRANSLOCATION carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. In order to search for balanced CHROMOSOMAL rearrangement and cytogenetic disorders, 10 members of related family with consanguinity marriage with the history of recurrent miscarriage were assessed.Case: Cytogenetic evaluation on the basis G-banding technique at high resolution was performed in 3 couples and their related family with the history of idiopathic RSA in order to postulate any balanced CHROMOSOMAL rearrangement.Conclusion: six members of them appeared with robertsonian balanced TRANSLOCATION between chromosome No.21 to No. 14 with the karyotype of 45, XX, t (14, 21) and 45, XY, t (14, 21), which this results are in agreement with several similar works which claimed that the risk of spontaneous abortion in couples with balanced CHROMOSOMAL rearrangements is higher compared with general population. Considering to results of present study, it seems as if the cytogenetic analysis of couples with the history of recurrent abortions should be suggested compulsory to estimate the probable presence of any CHROMOSOMAL rearrangement. This offer wills valuable information for genetic consulting.