Types Of Chromosomal Abnormalities Research Articles

English

One of the primary objectives in agriculture is providing high-quality crops to consumers. Multiple techniques and methods are utilized to achieve this objective, including nanotechnology that depends on the use of very small materials, which will help in decreasing the amounts usually used with similar effects. Nanomaterials are used as fertilizers and also as component of nano-pesticides for plants. Despite their benefits, however, studies have noted their potential for cytotoxicity and genotoxicity. In this study, five nanoparticles (NPs) were tested to assess their effects on plants. The chromosomal aberration assay was used. The results showed that some NPs decreased the mitotic index (MI) significantly, which indicates the NPs’ potential cytotoxicity. In addition, different NPs’ treatments caused different types of chromosomal abnormalities e.g., chromosomes stickiness and disturbance of the metaphase and anaphase, lagging chromosomes, bridges, disturbed poles, micronuclei, s-metaphase, s-telophase, c- metaphase and bi-nucleus cells. All treatments had significant effects at p≤005. Treatments with NPs concentrations for 24 h affected the DNA content, AlO2 and Fe3O4 NPs’ increased the DNA content, while CeO2, TiO2 and Ag NPs’ decreased it. High concentrations of the tested NPs decreased the DNA content. The study results showed that CeO2 was the most harmful NP compared to the control and other NPs. Some types of chromosome abnormalities such as lagging chromosomes, bridge, and micronuclei indicate potential genotoxicity for these NPs. Despite of the positive effects, they also had negative side effects such as decreasing the MI and increasing the occurrence of different types of chromosomal abnormalities. Key words: Cytotoxicity, genotoxicity, nanoparticles, mitotic chromosomes abnormalities.

Frequency and types of chromosomal abnormalities in acute lymphoblastic leukemia patients in Turkey

Acute lymphoblastic leukemia (ALL) is the most common malignancy in children and is usually associated with numerical and structural chromosomal changes.

Higher toxicity of nano-scale TiO2 and dose-dependent genotoxicity of nano-scale SiO2 on the cytology and seedling development of broad bean Vicia faba

Since nanotechnology entered the field of agriculture, its safety impact on crops has been a high priority interest. Here, we aimed to evaluate the effect of two different types of nanoparticles (n-), n-SiO2 and n-TiO2, on the above- and below-ground growth and the root-tip cell mitosis of broad beans (Vicia faba L.), one of the major carbohydrate food sources as well as an ecotoxicological model plant. Seeds were soaked in n-SiO2 and n-TiO2 each at different concentrations (25, 50 and 75 mg/L) for 24 h. Nano-TiO2 decreased vigor index, reflecting shorter shoots at all concentrations studied. By contrast, germination percentage and root length were not affected by any treatments. Cytological analysis suggested no significant difference in mitotic index (index for cell division activity) from the control. However, total chromosomal aberrations (%) were increased dose-dependently by n-SiO2 and dose-independently by n-TiO2. Also, different types of chromosomal abnormalities were induced by the nanomaterials; n-SiO2 induced bridges at 50 and 75 mg/L, whereas n-TiO2 induced breaks at 50 mg/L. In addition, cells in prophase were more frequently observed and those in anaphase less frequently seen with decreasing n-SiO2 concentrations. We concluded that n-TiO2 was more toxic than n-SiO2 for broad bean chromosomes and early plant development at the concentrations studied. Finally, our review indicates the lack of evidence of germination enhancement by n-TiO2 in Poaceae, a large monocotyledon family, which may require further attention.

13. THE CHROMOSOMAL SET ANALYSIS OF BLASTOCYSTS OBTAINED FROM MODIFIED DONOR OOCYTES BY THE PATIENT'S 1ST POLAR BODY TRANSFER

Introduction Transfer of the patient's 1st polar body (PB) to donor oocyte cytoplasm has proven to be an effective method to help patients with low ovarian reserve and poor response. This technique allows doubling the number of oocytes suitable for fertilization, while maintaining the biological relationship of patient with the future child. The use of transfer in our practice has shown the ability of modified oocytes to form high morphological quality blastocysts and their euploidy have been evaluated in this study. Materials and Methods The study was performed in the Medical Center IGR from March 2017 to December 2018 and involved 330 cells: 168 oocytes (group A) obtained from 39 patients (mean age 40.7±5.3 years) and 162 oocytes (group B) that were received from 28 donors (mean age 28.2±2.4). Donor oocytes have been pre-enucleated and modified by the transfer of patients’ 1stPB with further fertilization. The procedure was made using Nikon Ti Eclipse (Japan) inverted microscope, Saturn 3 laser console (UK). Preimplantation genetic testing for aneuploidy (PGT-A) was performed using trophectoderm (TE) biopsy on the post-fertilization hours 120 or 144. Samples were diagnosed using Ion S5 by Thermo Fisher Scientific(USA). The samples’ ploidy was verified by the FISH. We evaluated the number of euploid and aneuploid blastocysts from maternal and modified oocytes by the 1st PB transfer. Statistical analysis was carried out using Shapiro-Wilk test for normality and Chi-square test. Results In the group A there were 50 blastocysts (29.8%) that formed from 168 original patients’ oocytes and 29 blastocysts (17.9%) developed from 162 modified oocytes (group B). 45 blastocysts from group A and 27 blastocysts from group B were biopsied for PGT-A. The number of euploid embryos was 11 (24.4%) and 6 (22.2%) in the group A and group B, respectively, without statistically significant difference (SSD). Among the aneuploidies, single (only one chromosome was involved in nondisjunction) and complex (several chromosomes involved in nondisjunction) chromosomal anomalies were encountered. In the group A 13 (38.2%) samples carried single chromosomal disorder and 21 (61.8%) samples had complex quantitative abnormalities, in the group B these numbers reached 9 (47.4%).and 10 (52.6%) samples, respectively. Among the aneuploid embryos 79 chromosome abnormalities were found in A group samples and 38 numerical aberration in B group samples.. The following types of chromosomal abnormalities were detected in groups: autosome trisomy (50/63.3% vs. 25/65.8% samples), autosome monosomy (23/29.1% vs.6/15.8% samples), numerical violation of sex chromosomes (6/7.6% vs. 4/10.5% samples), polyploidy (0 vs. 2/5.3% samples), mosaicism (1/1.3% vs. 0 samples) in the group A and the group B, respectively. No SSD was found between the groups (p>0.05). Conclusions The results of our study demonstrated that the 1st PB transfer does not affect the chromosomal set of embryos obtained from modified oocytes in comparison with the original oocytes. This technique is useful to increase the number of female germ cells and avoid the full oocytes donation especially for patients with low ovarian reserve and for poor responders.

Analysis of Cytogenetic Characteristics and Clinical Prognosis in 236 Patients with Myelodysplastic Syndrome

To investigate the relationship of cytogenetic features, clinical characteristics and prognosis in patients with myelodysplastic syndrome. The clinical characteristics and prognosis of 236 patients with MDS admitted to the Affiliated Hospital of Xuzhou Medical University from January 2013 to September 2017 were analyzed retrospectively, the follow-up observation and correlation analysis were performed. There were 33 cases of refractory cytopenia with unilateral dysplasia (RCUD), 8 cases of refractory anemia with ring-shaped iron granulocytes (RARS), 70 cases of refractory cytopenia with multiple dysplasia (RCMD), 23 cases of refractory anemia (RA), 46 cases of refractory anemia with excessive blasts (RAEB-1), 48 cases of (RAEB-2), MDS-U 2 cases, simple del(5q) 6 cases. The detection analysis showed that the chromosome abnormality rate and complex chromosome abnormality rate in RAEB group (RAEB-1 + RAEB-2) and in non-RAEB group (RARS+RCMD+RCUD+RA) were 48.94% vs 43.94%, and 18.09% vs 12.69%, respectively, which were no statistically different. The grouping according to IPSS-R and IPSS showed that the chromosome abnormality rate gradually increased along with enhancement of risk stratifi-cation (P<0.05). The cytogenetic characteristics analysis showed that a total of 108 cases had chromosomal abnormalities, the detection rate was 45.76%, Out of 108 cases, 36 cases had complicated karyotypes, accounted for 15.25% of all patients. The types of chromosomal abnormalities mainly include numbers, structural abnormalities and mixed abnormalities. The chromosome abnormality with the highest detection rate was +8, accounted for 30.56% (33/100) of patients with chromosome abnormalities; followed by -7/7q-, del(5q), del(20q), etc. -7/7q-chromosome abnormalities accounted for 29.63% of all karyotypic abnormalities (including -7/7q-chromosome abnormalities alone and other chromosome abnormalities). The median age of the patients with MDS was 61 (13-88) years old, and the male-female ratio was 1.36∶1. Analysis of blood cell characteristics showed that the three lines were reduced or increased to varying degrees. The median WBC count was 2.8 (0.3-267.1)×109/L, the median Hb level was 69 (20-156) g/L, and the median Plt count was 55 (2-1733)×109/L. The 1 year OS rate in 32 cases of chromosome 7 abnormality and 128 cases of normal chromosome was 25% and 44.53%, respectively, the difference was statistically significant (χ2=4.05, P<0.05) . Chromosome karyotype is an independent factor affecting the prognosis of patients with MDS. It is important for the diagnosis, treatment and prognosis evalnation of patients with MDS. The overall prognosis of patients with abnormal chromosome 7 is poor. .

Fabrication of a vermifiltration unit for wastewater recycling and performance of vermifiltered water (vermiaqua) on onion (Allium cepa)

PurposeVemifiltration units are sludge-free, noise-free and low- or no-electricity-requiring systems of operation. The aim of this study was to emphasize wastewater treatment by vermifiltration technology using waste-eater earthworms to highlight the benefits of clean and nutritive vermifiltered water (vermiaqua) uses in agriculture to the farmers.MethodsWastewater sample was filtered through fabricated vermifiltration unit to study physio-chemical and biological properties of vermiaqua and uniform-sized Allium cepa (Onion) bulbs were kept for root germination at different concentrations (10−1, 10−3, 10−5, 10−7, 10−9) of wastewater and vermiaqua at room temperature for 5 days to study impacts of vermiaqua on morphological and cytological characteristics of onion.ResultsVermiaqua was odorless, pale yellow in appearance, lower in turbidity and highly nutritive as ammonia and nitrate contents were highly increased. In E. coli-free vermiaqua, BOD5 loads were also reduced by 91%. Almost all vermiaqua-treated root germinations were ‘accelerated’, whereas all wastewater-treated root germinations were ‘retarded’. The highest number of germinated roots was counted at 10−5 concentration of vermiaqua, whereas at the same concentration of wastewater no germination was observed. Many types of chromosomal abnormalities were observed at metaphase and anaphase stages of wastewater-treated roots, whereas the single type of chromosomal abnormality was observed at anaphase stage of vermiaqua-treated roots.ConclusionsEarthworms upgraded the performance of fabricated systems having integrated methods (biological, chemical and physical) of wastewater purification. Morphological and cytological studies revealed vermiaqua highly promoted the root germination without any chromosomal abnormalities.

Nonclonal Chromosome Aberrations and Genome Chaos in Somatic and Germ Cells from Patients and Survivors of Hodgkin Lymphoma.

Anticancer regimens for Hodgkin lymphoma (HL) patients include highly genotoxic drugs that have been very successful in killing tumor cells and providing a 90% disease-free survival at five years. However, some of these treatments do not have a specific cell target, damaging both cancerous and normal cells. Thus, HL survivors have a high risk of developing new primary cancers, both hematologic and solid tumors, which have been related to treatment. Several studies have shown that after treatment, HL patients and survivors present persistent chromosomal instability, including nonclonal chromosomal aberrations. The frequency and type of chromosomal abnormalities appear to depend on the type of therapy and the cell type examined. For example, MOPP chemotherapy affects hematopoietic and germ stem cells leading to long-term genotoxic effects and azoospermia, while ABVD chemotherapy affects transiently sperm cells, with most of the patients showing recovery of spermatogenesis. Both regimens have long-term effects in somatic cells, presenting nonclonal chromosomal aberrations and genomic chaos in a fraction of noncancerous cells. This is a source of karyotypic heterogeneity that could eventually generate a more stable population acquiring clonal chromosomal aberrations and leading towards the development of a new cancer.

Chromosomal abnormalities in couples with recurrent spontaneous miscarriage: a 21-year retrospective study, a report of a novel insertion, and a literature review.

The aim of this study is to evaluate the frequency and nature of chromosomal abnormalities in Moroccan couples with recurrent spontaneous miscarriage (RSM). In addition, the data were compared with those reported elsewhere in order to give a global estimation of chromosomal abnormalities frequencies. The study was performed for all couples with RSM who were referred to the cytogenetic department, Pasteur Institute of Morocco, from different hospitals in Morocco between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 627 couples with RSM, the chromosomal abnormalities were identified in 11.00% of couples, with chromosomal inversions in 4.30%, reciprocal translocations in 2.71%, Robertsonian translocations in 1.43%, and deletion, isochromosome, and insertion in 0.15% each. The insertion identified [46,XX,ins(6)(p24q21q27)] is new, and is the fourth reported in association with RSM. The mosaic karyotypes were observed in 0.64%, polymorphic variants were identified in 1.27%, and numerical aneuploidy was observed in 0.15%. In regrouping our results with those in 27 other studies already published in 21 different countries, we obtained the frequency of chromosomal abnormalities in couple with RSM to be 5.16% (991/19197 couples). The reciprocal translocation was the most frequent with 2.50%, followed by Robertsonian translocation 0.83% and inversions 0.77%. The other types of chromosomal abnormalities were present with 0.98% in the world. This data showed that the frequency of chromosomal abnormalities in Moroccan couples with RSM is 11.00%, and in regrouping our results with other studies, the frequency changes to 5.16%.

Chromosomal study for Assessment of Recurrent Spontaneous Miscarriage by Fluorescence in situ Hybridization (FISH) technique in Erbil City Iraqi- Kurdistan Region

Spontaneous miscarriage is the most frequent complication of pregnancy and, classically, defined as the occurrence ofat least two miscarriages before 20 weeks of gestation. Over 50 % of first trimester pregnancy losses are attributed tochromosomal abnormalities. This study aimed to investigate aneuploidy in spontaneous miscarriage by fluorescence in situhybridization (FISH) using probes for 13, 18, 21, X and Y chromosomes. A total of 100 tissue samples from concepts materialswere collected and examined by FISH. The incidence and type of chromosomal abnormality and sex ratio were analyzedfor each samples. Moreover, the relationship between the rate of aneuploidy and maternal age also the relationship betweenmaternal age and type of aneuploidy and the difference in incidence of aneuploidy between samples from previous miscarriageand those with no previous miscarriage were investigated. Results obtained from this study revealed that, 52 of 100 cases werewith aneuploidy. Trisomy 21, 18, and 13 was the major aneuploidy followed by monosomy X. Cases of miscarriages whichcontain chromosomal abnormalities were higher in females than males. Cases with advanced maternal age and history ofprevious miscarriage were significantly have higher aneuploidy rate compared with young age cases and those with no previousmiscarriage. However, rates of trisomies 18, 13, and 21 of the advanced maternal age group were remarkably higher thanthose of the young maternal age group.Keywords: Recurrent miscarriage, Aneuploidy, Florescence In Situ Hybridization, Maternal age, Sex Ratio.

Chromosomal abnormalities in recurrent miscarriages by conventional karyotyping analysis

Abstract Objectives: to describe the prevalence and types of chromosomal abnormalities in couples with recurrent miscarriage and products of conception. Methods: electronic searches were performed in the PubMed/Medline database and in the Portal Regional da Biblioteca Virtual em Saúde/BVS (Regional Website of the Virtual Library in Health/BVS) using the descriptors “chromosomal abnormalities and abortions and prevalence”. After applying the inclusion and exclusion criterias, 17 studies were selected. Results: 11 studies were conducted in couples with recurrent miscarriage and six in products of conception. The main results of the couples with recurrent miscarriage were: the frequency of chromosomal abnormalities which varied from 1.23% to 12% and there was a predominance alteration of the chromosomal structures (reciprocal translocations, followed by Robertsonian). In products of conception, the results observed were: the frequency of chromosomal abnormality was above 50% in approximately 70% of the studies; there was a predominance alteration of the numerical chromosomal (trisomy - chromosomes 16, 18, 21 and 22, followed by polyploidy and monosomy X). Conclusions: in summary, cytogenetic alterations represent an importante cause of pregnancy loss and its detection can help couples with genetic counseling. Therefore, the value of knowledge on the prevalence of cytogenetic abnormalities in miscarriage samples is unquestionable, once it is permitted a proper genetic counseling for the couple.

Characterisation of clonal Philadelphia-negative cytogenetic abnormalities in a large cohort of chronic myeloid leukaemia.

Clonal Philadelphia (Ph)-negative cytogenetic abnormalities (CPCA) have been reported in chronic myeloid leukaemia (CML) patients treated with either interferon or tyrosine kinase inhibitor (TKI). However, the incidences and types of these cytogenetic abnormalities after treatment vary due to the limited populations enroled. We analysed the frequency and types of CPCA in a cohort of 607 CML patients in the chronic phase after TKI treatment. We also followed up these CPCA with a median of 31.8 months (range from 11 to 63 months) from diagnosis and investigated their effects on disease progression. We found 18 out of 607 CML patients had cytogenetic abnormality in the Ph-negative cells with an incidence of 3%. In total, six types of chromosomal abnormalities have been identified in these 18 patients with the majority of them aneuploidy abnormalities, especially the trisomy 8. Four of 18 patients (22.2%) were noted to have several abnormalities in the Ph-negative cells. Furthermore, follow-up studies of these CPCA showed that they could be either persistent or transient (15 vs 3 patients), and may not affect disease progression since none of them developed transformed myelodysplasia or transformed acute myeloid leukaemia. Three percent of CML patients in the chronic phase were observed to have CPCA during TKI treatment. Our results suggest that the detection of CPCA in CML may not predict disease progression.

Prospects of botanical pesticides for the future in pest management.

IN THIS STUDY, three plant oils (fenugreek, ginseng and marjoram) and the bio-insecticide abamectin were used as agricultural insecticides. Effects of these materials on cowpea weevil (Callosobruchus maculatus) and on Vicia faba plant cells were examined. Results showed that the mortality percentage of C. maculatus adult increased with the increase of dose treatments (ml/kg) and by increasing the time of exposure. The residual activity of the tested materials on cowpea seeds at storage periods (3 months) showed that 2LC95 of tested oils have a reduction effect on Callosobruchus maculatus progeny (F1 ); which decreased gradually till the 6th week while, LC95 of abamectin decrease the number of F1 to zero (100% reduction) in all times of treatment until storage periods. The percentage of C. maculatus emergence in cowpea seed treated with the tested mixtures (oils- abamectin) showed that mixture 2 is the most effective which recorded 100% at the initial time up to 12th week.On the other hand, the cytotoxic effects using root tips of Vicia faba assay showed reduction in MI in all treatments applied which increased with the increase of the concentration. It recorded 2.42, 2.01, 1.64 and 0.91% in roots treated with the highest concentration of fenugreek, ginseng, marjoram and abamectin respectively, as compared with negative control (4.18%) or with the positive control (1.83%). All the mixtures (oils- abamectin) applied recorded significant decrease in MI values. Different types of chromosome abnormalities were recorded such as stickiness, disturbance in metaphase and anaphase, C-metaphase, chromosome bridges, lagging chromosome and micronuclei at interphase.

Analysis of chromosomal abnormalities in 107 fetuses with conotruncal defects using low coverage whole-genome sequencing

Objective To investigate chromosomal abnormalities in fetuses with conotruncal defects(CTD). Methods From January 2013 to February 2017, 107 fetuses (singleton pregnancy) prenatally diagnosed as CTD in Beijing Anzhen Hospital were enrolled. Umbilical cord specimens of these fetuses were collected after termination of pregnancy and analyzed by low coverage whole gene sequencing to detect chromosomal aneuploidy and copy number variations. Types of chromosomal abnormalities in these cases were analyzed. Chi-square test was used for statistical analysis. Results Twenty-two cases (21%, 22/107) were identified with chromosomal abnormalities. The most common seen chromosomal abnormalities were found in those with interrupted aortic arch (2/2), followed by those with tetralogy of Fallot and pulmonary atresia/stenosis accompanied with ventricular septal defect (28%, 12/43). No chromosomal abnormalities were detected in fetuses with aortopulmonary septal defect (0/2). Differences were shown in the detection rates of chromosomal abnormalities among different types of CTD (χ2=12.744, P=0.026). Among the 22 fetuses with chromosomal abnormalities, there were seven with abnormal aneuploidy (three trisomy-13s, two trisomy-18s, one trisomy-21 and one 45,X) and 15 with pathogenic copy number variations [11 cases with 22q11.2 microdeletion syndrome, two with 17p12p11.2 microdeletion (Smith-Magenis syndrome), one with 8p23.3p21.3 microduplication and one with 2p23.1p25.2 microdeletion]. Of the 15 cases with pathogenic copy number variations, 12 segments of microdeletion/microduplications were de novo and one was paternally inherited, while the causes of the other two were not clear because their parents refused chromosomal testing. Conclusions Fetal CTD are likely to be accompanied with aneuploidy abnormalities and chromosome microdeletions/microduplications and the detection rate of chromosomal abnormalities varied with the type of CTD. Microdeletion and microduplication, especially de novo microdeletions/duplications, are the common chromosomal abnormalities. Chromosome analysis is recommended for fetuses prenatally diagnosed with CTD. Key words: Cardiovascular abnormalities; Chromosome aberrations; Chromosome deletion; Aneuploidy; DNA copy number variations

Chromosomal abnormality variation detected by G-banding is associated with prognosis of diffuse large B-cell lymphoma treated by R-CHOP-based therapy.

Diffuse large B‐cell lymphoma (DLBCL), which is the most prevalent disease subtype of non‐Hodgkin lymphoma, is highly heterogeneous in terms of cytogenetic and molecular features. This study retrospectively investigated the clinical impact of G‐banding‐defined chromosomal abnormality on treatment outcomes of DLBCL in the era of rituximab‐containing immunochemotherapy. Of 181 patients who were diagnosed with DLBCL and treated with R‐CHOP or an R‐CHOP‐like regimen between January 2006 and April 2014, metaphase spreads were evaluable for G‐banding in 120. In these 120 patients, 40 were found to harbor a single chromosomal aberration type; 63 showed chromosomal abnormality variations (CAVs), which are defined by the presence of different types of chromosomal abnormalities in G‐banding, including 19 with two CAVs and 44 with ≥3 CAVs; and 17 had normal karyotypes. No specific chromosomal break point or numerical abnormality was associated with overall survival (OS) or progression‐free survival (PFS), but the presence of ≥3 CAVs was significantly associated with inferior OS rates (hazard ratio (HR): 2.222, 95% confidence interval (CI): 1.056–4.677, P = 0.031) and tended to be associated with shorter PFS (HR: 1.796, 95% CI: 0.965–3.344, P = 0.061). In addition, ≥3 CAVs more frequently accumulated in high‐risk patients, as defined by several conventional prognostic indices, such as the revised International Prognostic Index. In conclusion, our results suggest that the emergence of more CAVs, especially ≥3, based on chromosomal instability underlies the development of high‐risk disease features and a poor prognosis in DLBCL.

Long range haplotyping of paired-homologous chromosomes by single-chromosome sequencing of a single cell

The longest possible haplotype is chromosome haplotype that is a set of co-inherited alleles occurred on a single strand chromosome inherited from one parent. Standard whole-genome shotgun sequencing technologies are limited by the inability to independently study the haplotype of homologous chromosomes due to the short-reads sequencing strategy and disturbance of homologue chromosomes. Here, we investigated several types of chromosomal abnormalities by a dilution-based method to separate an intact copy of homologous chromosome from human metaphase cells, and then single chromosomes were independently amplified by whole-genome amplification methods, converted into barcoded sequencing libraries, and sequenced in multiplexed pools by Illumina sequencers. We analyzed single chromosome derived from single metaphase cells of one patient with balanced chromosomal translocation t(3;5)(q24;q13), one patient with (47, XXY) karyotype and one with (47, XY, 21+) Down syndrome. We determined the translocation region of chromosomes in patient with t(3;5)(q24;q13) balanced chromosomal translocation by shallow whole-genome sequencing, which is helpful to pinpoint the chromosomal break point. We showed that SCS can physically separate and independently sequence three copies of chromosome 21 of Down syndrome patient. SCS has potential applications in personal genomics, single-cell genomics, and clinical diagnosis, particularly in revealing chromosomal level of genetic diseases.

Cadmium exposure triggers genotype-dependent changes in seed vigor and germination of tomato offspring.

Although negative effects on the offspring fitness can be triggered by the mother-plant exposure to environmental stresses, some plants are able to "remember" past incidents and enhance the progeny tolerance. Here, the mineral profile, cytogenetic modifications, and physiological potential of seeds from two tomato cultivars, with contrasting tolerance degrees to cadmium (Cd) toxicity, were evaluated after plant exposure to this metal. Both cultivars exhibited high Cd translocation to the seeds; however, the tolerant tomato accumulated more Cd than did the sensitive one. As a consequence of the Cd accumulation, reductions in the Mn concentration in Cd-challenged plants were detected. Surprisingly, seed germination and vigor were increased in the tolerant tomato cultivar after Cd exposure, despite increases in the chromosomal abnormalities. By contrast, seeds from the sensitive cultivar exhibited no changes in their physiological potential after Cd exposure, despite Cd-induced reductions in the mitotic index. Moreover, bunch position exerted effects on the vigor and type of chromosomal abnormality. The results show that maternal plant exposure to Cd can affect tomato offspring by changing the seed physiological potential, and such effect can be partially explained by alterations in the seed-derived elements (essential and non-essential) and genotype-dependent tolerance mechanisms.

The Frequency of Chromosomal Abnormalities in Individuals with Susceptibility to Abortion and/or Infertility by Cytogenetics Method

Background and Aim: Abnormality karyotype of couples can produce susceptibility to infertility or abortion. Therefore, the first step to study these couples should be determining karyotype by cytogenetic method. In this study assay the prevalence of abnormalities chromosomal these couples from western provinces of Iran. Method: A cytogenetic study was performed on 200 individuals (124 women (28.1 ± 5) and 76 males (30.7 ± 5) with infertility and/or abortion with age average 30.81 ± 5 using lymphocyte culture and high-resolution G-banding method. Results: Normal karyotype and various types of chromosomal abnormalities were observed in 138 (69%) and 62 (31%) individuals, respectively. Also, the frequency of translocations, insertions, deletions, inversions and duplications were 40.32% (25), 22.6% (14), 17.74% (11), 9.7% (6) and 9.7% (6) respectively, that the highest frequency was related to changes in transposition or chromosomal displacement with 25 cases (40.3%) In addition, the types of chromosomal abnormalities involving translocations, insertions, deletions, inversions and duplications were detected in 15, 9, 6, 3 and 2 persons, respectively, from 35 patients with RLP and 10, 5, 5, 3 and 4 persons, respectively, of 27 patients with infertility. Conclusion: This issue can also play a role in the planning of pregnant mother’s health.

Down syndrome: a cytogenetic study in North Indian population

Down syndrome constitutes the most common chromosomal abnormality among live births (1 in 730 live births) and most frequent form of intellectual disability. Genetic cause for this syndrome is trisomy of chromosome 21. The cytogenetic profile of Down syndrome includes free trisomy 21, Robertsonian translocations, mosaicism, duplication of the DS critical region and other structural rearrangements involving chromosome 21. Purpose of the study was to confirm the clinical diagnosis of suspected cases of Down syndrome by karyotyping and to evaluate several risk factors associated with trisomy 21 among patients belonging to Lucknow region. Karyotype analysis was done in 46 patients with clinical suspicion of Down syndrome. GTG banding was done according to standard protocols. Findings: out of 46 cases i.e., 43 (93.5%) had abnormal karyogram. All these 43 cases had trisomy 21 (Down's syndrome). Among patients with Down syndrome, free trisomy (n=40; 93%) was most common followed by Robertsonian translocation (n=2; 4.7%) and mosaic trisomy (n=1; 2.3%) respectively. Majority of patients were males (n=27; 62.7%) and there were 16 (37.3%) females. Male to female ratio of Down syndrome patients was 1.68. 50% of patients with Down syndrome were born to mothers falling in age group of 36-40 y. Identification of various types of chromosomal abnormalities in Down syndrome is very important. It aids in management of these children and to aware the affected families about recurrence risk and options available.

Monitoring of morphotoxic, cytotoxic and genotoxic potential of mancozeb using Allium assay

The present experiment was designed to monitor the morphotoxic, cytotoxic and genotoxic potential of Mancozeb (fungicide) in non-target plants using bulbs of Allium cepa. Mancozeb is classified as a contact fungicide and is registered for use on a variety of crop plants. In the present monitoring, Allium cepa bulbs were exposed to different concentrations of mancozeb viz., 10, 30, 50, 70, 90, 110, 130 and 150 ppm for 24 and 48 h. The potential morphotoxic and cytotoxic effects of mancozeb were examined by determining the average root number, average root length, mitotic index, relative abnormality rate (%) and frequency of abnormalities (%). A progressive significant concentration and time dependent inhibition of the average root number, average root length indicated the morphotoxic nature. The cytotoxic effect was significantly increased for 48 h treatment as compared to 24 h treatment time, by reducing the mitotic index of meristematic cells. The results indicated an indirect genotoxic effect by inducing different types of chromosomal abnormalities, likely sticky, disoriented and fragmented chromosomes. Thus indicating that the investigated fungicide have genotoxic potential due to abnormal DNA condensation and chromosome coiling by spindle inactivation. The observations of cyto and genotoxic effects suggest that the fungicide mancozeb is clastogenic agent. Thus the different concentrations used in the field could be harmful for the end-receptors of food-chain and needs constant monitoring and management for the better development of crop plants.

Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 cases.

The purpose of this study is to perform a retrospective analysis of types and frequencies of chromosomal abnormalities detected by conventional cytogenetic studies in first-trimester miscarriages after spontaneous conception and IVF. Standard cytogenetic analysis of GTG-banded chromosomes obtained from products of conception (POCs): semi-direct and short-term cultured chorionic villi or long-term cultured fetal mesodermal cells. 50.1% of first-trimester miscarriages in the studied group had chromosomal abnormalities: 59.7% of trisomies, 22% of poliploidies, 7.5% of monosomies, 7% of unbalanced structural abnormalities, and 3.8% of multiple aneuploidies. An increase in the frequency of chromosomally abnormal miscarriages was observed in the group of women above 40 when compared to groups of women under 35 (P<0.05). No difference in frequencies and types of chromosomal abnormalities in POCs of miscarriages after ICSI and spontaneous conception was observed. Approximately, 50% of first-trimester miscarriages have chromosomal abnormalities which can be detected by conventional cytogenetic analysis. The presence of chromosomal abnormality may explain the cause of miscarriage, improving the reproductive counseling and planning.