Introduction: Most of the hematologic malignancies are heterogenous with regard to morphology, immunophenotype, and genetic rearrangements. Multiple recurrent CHROMOSOMAL aberrations have been identified by conventional cytogenetic analysis, which is now widely recognized as one of the most important diagnostic and prognostic determinants in these patients.Patients and Methods: Bone marrow samples were obtained from 80 patients with different hematologic malignancies. These consisted of 43 CML cases, 27 AML, 9 ALL and 1 MDS. In each case, cells were cultured and conventional cytogenetic analysis was performed.Results: Among the 80 subjects, 53(66%) were abnormal and 27(34%) showed apparently normal karyotype. The various aberrations in abnormal cases were t(9;22) (q34;q11) in 43 CML (100%), Monosomy Y in 2 CML (4.6%), monosomy 7 in 1 CML (2.4%), trisomy 8 and t(15;17) (q22;q21) in 2 AML case (7.4%), t(8;21) (q22;q22) in 1 AML (3.7%) and complex karyotype in 2 CML, 1 AML , 1 ALL and 1 MDS (6%). Apart from these, some novel CHROMOSOMAL abnormalities were observed in our study population.Conclusion: The difference in the frequency of clonal CHROMOSOMAL aberrations is probably the result of the applied methods for chromosome preparation and often very poor morphologic chromosome appearance, making the identification of finer structural abnormalities more difficult. Furthermore, ongoing cytogenetic studies are warranted in larger groups of hematologic malignancies to identify newly acquired CHROMOSOMAL aberrations that may aid in cloning novel genes involved in the neoplastic process, ultimately helping in the development of targeted therapeutic drugs.

Tritipyrum (2n=6x=42; AABBEbEb) is a new synthetic allohexaploid created through crossing durum wheat (2n=4x=28; AABB) and Thinopyrum bessarabicum (2n=2x=14; EbEb) and subsequently doubling the hybrid plant chromosomes. Secondary Tritipyrum is referred to the progenies of wheat and Tritipyrum crosses, obtained during segregating generations. The study of CHROMOSOMAL constitution and fertility is very important in the assessment of hybrids derived fi:om wheat and wild relative crosses. Navid cuItivar of bread wheat (AABBDD; 2n=6x=42) was crossed with Tritipyrum (AABBEbEb; 2n=6x=42) the FI progenies being produced. F2 seeds were obtained by selfmg Fl plants and their chromosome number determined. The F2 plants possessing 42 chromosomes were selected for the study of their meiotic behavior. In spite of high CHROMOSOMAL stability and fertility of the parents (wheat and Tritipyrum), these characteristics in F2 plants were observed as low probably due to the different CHROMOSOMAL compositions and a lack of chromosome homology of D and Eb genomes and consequently the formation of univalents in pollen mother cells of F2 plants. The results of meiotic analysis of F2 plants confirmed the accessibility of different CHROMOSOMAL composition and the production of either the addition or substitution lines in the progenies of segregating generations.

Background: Cytogenetic study of reproductive wastage is an important aspect in determining the genetic background of early embryogenesis. Approximately 15 to 20% of all pregnancies in humans are terminated as recurrent spontaneous abortions (RSAs). The aim of this study was to detect chromosome abnormalities in couples with RSAs and to compare our results with those reported previously.Materials and Methods: In this retrospective study, the pattern of CHROMOSOMAL aberrations was evaluated during a six-year period from 2005 to 2011. The population under study was 728 couples who attended genetic counseling services for their RSAs at Pardis Clinical and Genetics Laboratory, Mashhad, Iran.Results: In this study, about 11.7% of couples were carriers of CHROMOSOMAL aberrations. The majority of abnormalities were found in couples with history of abortion, without stillbirth or livebirth. Balanced reciprocal translocations, Robertsonian translocations, inversions and sex chromosome aneuploidy were seen in these cases. Balanced reciprocal translocations were the most frequent CHROMOSOMAL anomalies (62.7%) detected in current study.Conclusion: These findings suggest that CHROMOSOMAL abnormalities can be one of the important causes of RSAs. In addition, cytogenetic study of families who experienced RSAs may prevent unnecessary treatment if RSA are caused by CHROMOSOMAL abnormalities. The results of cytogenetic studies of RSA cases will provide a standard protocol for the genetic counselors in order to follow up and to help these families.

Background and Objective: Fanconi anemia is the most prevalent inherited aplastic anemia. Diagnosis based solely on the recognition of clinical symptoms is not reliable. This study was done to determine CHROMOSOMAL aberrations in patients suspected with the risk of Fanconi anemia in the Eastern Azarbaijan province- Iran.Materials and Methods: This descriptive study was conducted on 20 patients in the Eastern Azarbaijan province-Iran. The cytogenetic method was used to determine type and number of CHROMOSOMAL disorders.Results: Nine eight and nine patients had co-morbid anemia, platelet deficiency and 9 patients had hand and finger deformities, respectively. Using cytogenetic method, Fanconi anemia was confirmed in 5 (25%) of the cases. The percentage of mitotic abnormalities in the chromosomes without administration of mitomycin C varied between 5-30% in the cultures of the 5 affected and between 0-4% in the 15 unaffected patients with the administration of mitomycin C, the percentages were increased up to 35-78% and 0-20% in affected and unaffected patients, respectively.Conclusion: Fanconi anemia is confirmed precisely in 25% of suspected patients using cytogenetic method.

Early identification of fetuses with CHROMOSOMAL abnormalities enables health care providers to form an appropriate management plan for each patient. The main objective of this study was to determine the role of ultrasonography in screening and identifying fetuses at risk for CHROMOSOMAL abnormalities. A retrospective review of 6480 patients from the Obstetrics and Gynecology ward of Firouzgar hospital in Tehran was undertaken. Computer databases of patients were correlated to compare the results of the fetal ultrasonographic examination with the cytogenetic results from amniocentesis. Univariate and multivariate analyses were used to determine the best correlations between ultrasonography findings and CHROMOSOMAL abnormalities. Thirty-seven CHROMOSOMAL abnormalities were found in 6480 fetuses (0.57%). Down syndrome was the most common finding with trisomy 18 and 13 being the next two most common abnormal findings. Multivariate analysis showed significant correlations between anomalies of the central nervous system, heart, face and neck, and extremities and increased nuchal fold, increased bowel echogenicity, abnormal biparietal diameter to femur ratio and the presence of CHROMOSOMAL abnormalities (p value<0.001). Analysis of data indicated that the presence of any kind of ultrasonographic abnormality increases significantly the risk of fetal CHROMOSOMAL abnormalities. It is also suggested that a normal ultrasonographic examination in an otherwise at-risk patient will significantly reduce the risk of fetal CHROMOSOMAL abnormalities.

Spectral karyotyping is a novel method for the simultaneous visualization of the entire chromosomes of an organism by painting the chromosomes using a combination of fluorochromes. This allows improved identification of CHROMOSOMAL aberrations that cannot be identified by conventional banding methods. Since introduction of cancer as a disease of the genome, researchers have employed various molecular techniques for a better understanding of malignancies. This review discusses the role and contributions of spectral karyotyping in the study and characterization of both solid and hematological malignancies.

Spermatogenesis is an essential stage in human male gamete development, which is regulated by many Y chromosome specific genes. Most of these genes are centred in a specific region located on the long arm of the human Y chromosome known as the azoospermia factor region (AZF). Deletion events are common in Y chromosome because of its peculiar structural organization. Astonishingly, among the several known genetic causes of male infertility, Y CHROMOSOMAL microdeletions emerged as the most frequent structural chromosome anomaly associated with the quantitative reduction of sperm. The development of assisted reproductive techniques (ART) like intra-cytoplasmic sperm injection (ICSI) and testicular sperm extraction (TESE) helps to bypass the natural barriers of fertilization, but it increases the concern about the transmission of genetic DEFECTS. Experimental evidence suggested that the men with Y CHROMOSOMAL microdeletions vertically transmitted their deletion as well as related fertility disorders to their offspring via these ART techniques. In India, infertility is on alarming rise. ART centres have opened up in virtually every state but still most of the infertility centres in India do not choose to perform Y CHROMOSOMAL microdeletion diagnosis because of some advanced theoretical reasons. Moreover, there is no consensus among the clinicians about the diagnosis and management of Y CHROMOSOMAL microdeletion DEFECTS. The current review discusses thoroughly the role of Y chromosome microdeletion screening in the workup of male infertility, its significance as a diagnostic test, novel approaches for screening Y deletions and finally a systematic review on the current status of Y chromosome microdeletion deletion screening in India.

Background: We aimed to assess the frequency and structure of CHROMOSOMAL abnormalities as well as the distribution of the indications of prenatal diagnosis in 4206 cases of high-risk pregnant women. Methods: A retrospective analysis of cytogenetic studies of 4206 pregnant women with indications of amnio-centesis, referred to Linyi Women and Children’ s Hospital, Shandong Province, Linyi, China in 2016-2017, was performed. Among those, 4191 amniotic fluid specimens were successfully extracted and cultured, and re-ceived karyotype diagnosis. Results: A total of 358 abnormal karyotypes were detected and the abnormal rate was 8. 54%. Among them, autosomal aneuploidy was the most common pattern occupied 64. 53% and the detection rate was 5. 51%, of which 173 (48. 32%) cases were 21-trisomy, which was the main type of abnormal karyotypes, followed by 18-trisomy (14. 25%). There were 38 cases with sex chromosome aneuploidy, including 47, XXY, 47, XXX, 47, XYY, 69, XXX and 45, X0, accounting for 10. 61% of the total chromosome abnormalities and the detection rate was 0. 91%. Chromosome structural disorders occupied 10. 61% (38/358) of the chromosome abnormali-ties, including Robertson translocation (16 cases), balance translocation (14 cases), inversion (3 cases), deletion (3 cases), and so on. Chromosome polymorphism was 10. 61% too. Other uncommon abnormal karyotypes included mosaicism (11/358), marker chromosome (1. 3%). Advanced age and serological screening for high risk were the major prenatal diagnostic indications for pregnant women with CHROMOSOMAL abnormalities. Conclusion: The karyotype analysis of amniotic fluid cells in pregnant women with different amniocentisis indications can effectively prevent the birth of fetuses with CHROMOSOMAL diseases and reduce the risk of fetal malformation.