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Purpose:This study aimed to determine the cytogenetical distribution of chromosomal disorders in couples after recurrent early pregnancy loss. Background:One of the most important causes of pregnancy loss found in around half of the first trimester miscarriages is fetal chromosomal abnormalities, the role of fetal chromosomal disorders needs to be better evaluated. Method:This study was conducted at two hospital and private clinics in Duhok, Iraqi Kurdistan from February 2017 to February 2022, and reviewed retrospectively The study included 150patients with history of Recurrent Early Pregnancy Loss were admitted for curettage because of miscarriage in early pregnancy Patients were divided in two group. Results:The study population included a total of 150 fetal tissue specimens obtained during dilation and curettage after the diagnosis of spontaneous miscarriage. Patients were divided in two groups. Group 1 included 95patients with an abnormal embryonic karyotype in the aborted material. Group 2 comprised 55 patients with a normal embryonic karyotype in the aborted products. Patients with a normal embryonic karyotype in the aborted products were significantly younger (p=0.0147). Conclusion:Young patients suffering from repeated miscarriages have a low probability to find chromosomal disorders in the embryonic tissue. Chromosomal analysis should be offered after previous miscarriages before further diagnostic methods are performed.

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

BACKGROUND: The intersection of ART and molecular genetic science is fast growing. It is now possible to utilize the advances in molecular genetics for clinical application to detect chromosomal aberrations in preimplanting embryos. As molecular genetic techniques have improved, it is now possible to test the complete characterization of human genome variation with reasonable accuracy. In this article, we have tried to summarize the common current indications of chromosomal analysis of preimplanting embryos in couples having various chromosomal dominant or chromosomal recessive heritable disorders leading to the birth of a new born baby with chromosomal aberrations or leading to repeated miscarriage. CONCLUSION: The currently available techniques of embryo biopsy have their advantages and shortcomings. Today, preimplantation genetic testing to diagnose a euploid embryo is widely used in clinical practice in couples undergoing IVF ET treatment. By eliminating the transfer of aneuploid embryos, the pregnancy rate improves per embryo transfer and it shortens the time of conception from the start of IVF treatment. We have also discussed the current scenario of the place of PGT-A for routine use in IVF treatment procedure in view of the possible risk of losing euploid embryos due to the shortcoming of the embryo biopsy procedure.

Pierre Robin sequence (PRS) is characterized by the triad of retrognathia, glossoptosis, and airway obstruction. PRS may occur in isolation or in conjunction with other syndromes. Distinguishing isolated and syndromic forms of PRS helps clinicians decide the management plan. We describe two cases of PRS of Indian ethnicity and describe some of the difficulties that we faced while distinguishing isolated PRS from syndromic PRS. Both cases had a similar clinical presentation. However, one of the cases had a positive family history of congenital deafness and cleft palate, whereas the other case had apparent upper limb anomalies. These facts heightened the suspicion of an associated syndrome. However, based on the available facts and after thorough investigations, a tentative diagnosis of isolated PRS was made for both the patients. Both the cases were managed conservatively and were advised a long-term follow-up. When the associated anomalies are few, minor or concealed at birth, longitudinal follow-up of all PRS cases combined with thorough diagnostics including chromosomal analysis could help differentiate syndromic PRS from isolated PRS. Regardless, all cases of PRS require a multidisciplinary approach.

Aims: The aim of this paper is to develop an in vitro organogenesis and callogenesis protocol for Carolina Reaper pepper, and to determine the karyotype and nucleoli of this cultivar. Methodology: The MS medium with supplemented with indole-3-butyric (0, 1, 2 and 4 mg L-1) and kinetin (0, 1, 2 and 4 mg L-1) was used. The leaves and nodal segments of Carolina reaper was utilized for the callogenesis and organogenesis induction. The responses to growth regulators were evaluated 30 days of cultivation. The meristematic tissue was pre-treated with 0.05% (w/v) of colchicine for six hours at 18°C. The samples were fixed in Carnoy for 12 hours. Chromosomal observations were made with binocular optical microscope (Leica DM 750) and the cells in good condition for counting the chromosomes and karyotype assembly were photographed. Results were presented as mean ± standard deviation and were compared by the two-way Analysis of Variance. The means were separated according to Tukey test (P = 0.05). Results: Calli were induced from both leaf and stem segments when indole-3-butyric 0 mg L-1 + kinetin 1 mg L-1 were used. Development of shoots in leaf and stem segment were obtained when indole-3-butyric 2 mg L-1 + kinetin 4 mg L-1 were used, and roots regenerated with indole-3-butyric 4 mg L-1 + kinetin 1 mg L-1. It was found two nucleoli in every cell interphase, suggesting that two nucleolar organizer regions are expressing their ribosomal genes. Karyotype analysis indicated a chromosome number of 2n = 24, which is correlation with other Capsicum genus varieties. It was observed 1 or 2 nucleoli per nucleus of both types, homomorphic and heteromorphic. The results can help in programs of breeding and conservation of this cultivar and other species of pepper. Conclusion: Using the concentrations of growth hormones indicated in the present report, it could be possible to regenerate leaves and nodal segments in vitro clones from the original genotype. We have also described the chromosome number and nucleolus number of Carolina reaper, generating a data that could help in programs of breeding, as in the generation of polyploid plants and conservation species of pepper.

Summary Primary amenorrhea could be caused by disorders of four parts: disorders of the outflow tract, disorders of the ovary, disorders of the anterior pituitary, and disorders of hypothalamus. Delay in diagnosis and hormone substitution therapy causes secondary osteoporosis. Herein, we report a case of a 23-year-old phenotypical female who presented with primary amenorrhea from 46, XX gonadal dysgenesis but had been misdiagnosed as Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The coexistence of gonadal dysgenesis and MRKH was suspected after laboratory and imaging investigations. However, the vanishing uterus reappeared after 18 months of hormone replacement therapy. Therefore, hormone profiles and karyotype should be thoroughly investigated to distinguish MRKH syndrome from other disorders of sex development (DSD). Double diagnosis of DSD is extremely rare and periodic evaluation should be reassessed. This case highlights the presence of estrogen deficiency state, the uterus may remain invisible until adequate exposure to exogenous estrogen. Learning points: An early diagnosis of disorders of sex development (DSD) is extremely important in order to promptly begin treatment, provide emotional support to the patient and reduce the risks of associated complications. Hormone profiles and karyotype should be investigated in all cases of the presumptive diagnosis of Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome or Mullerian agenesis. The association between 46, XX gonadal dysgenesis and Mullerian agenesis has been occasionally reported as a co-incidental event; however, reassessment of the presence of uterus should be done again after administration of exogenous estrogen replacement for at least 6–12 months. A multidisciplinary approach is necessary for patients presenting with DSD to ensure appropriate treatments and follow-up across the lifespan of individuals with DSD.

Summary Primary aldosteronism (PA) is more common than expected. Aberrant adrenal expression of luteinizing hormone (LH) receptor in patients with PA has been reported; however, its physiological role on the development of PA is still unknown. Herein, we report two unique cases of PA in patients with untreated Klinefelter’s syndrome, characterized as increased serum LH, suggesting a possible contribution of the syndrome to PA development. Case 1 was a 39-year-old man with obesity and hypertension since his 20s. His plasma aldosterone concentration (PAC) and renin activity (PRA) were 220 pg/mL and 0.4 ng/mL/h, respectively. He was diagnosed as having bilateral PA by confirmatory tests and adrenal venous sampling (AVS). Klinefelter’s syndrome was suspected as he showed gynecomastia and small testes, and it was confirmed on the basis of a low serum total testosterone level (57.3 ng/dL), high serum LH level (50.9 mIU/mL), and chromosome analysis. Case 2 was a 28-year-old man who had untreated Klinefelter’s syndrome diagnosed in his childhood and a 2-year history of hypertension and hypokalemia. PAC and PRA were 247 pg/mL and 0.3 ng/mL/h, respectively. He was diagnosed as having a 10 mm-sized aldosterone-producing adenoma (APA) by AVS. In the APA, immunohistochemical analysis showed co-expression of LH receptor and CYP11B2. Our cases of untreated Klinefelter’s syndrome complicated with PA suggest that increased serum LH levels and adipose tissues, caused by primary hypogonadism, could contribute to PA development. The possible complication of PA in hypertensive patients with Klinefelter’s syndrome should be carefully considered. Learning points: The pathogenesis of primary aldosteronism is still unclear. Expression of luteinizing hormone receptor has been reported in aldosterone-producing adenoma. Serum luteinizing hormone, which is increased in patients with Klinefelter’s syndrome, might contribute to the development of primary aldosteronism.

Each species has a typical karyotype, which represents the phenotypic appearance of the somatic chromosomes including number, size, and morphology. Idiogram is a diagrammatic representation of the chromosomes showing their relative size, homologous groups and different cytogenetic landmarks. Chromosomal analysis of cytological preparations is an essential component of many investigations which involves the calculation of karyotypic parameters and generation of idiogram. Although various tools are available for karyotype analysis, here we demonstrate karyotype analysis using our recently developed tool named KaryoMeasure. KaryoMeasure is a semi-automated free and user-friendly karyotype analysis software that facilitates data collection from different digital images of the metaphase chromosome spreads and calculates a wide variety of chromosomal and karyotypic parameters along with the related standard errors. KaryoMeasure draws idiograms of both diploid and allopolyploid species into a vector-based SVG or PDF image file.

Background Embryonic chromosomal abnormality is one of the significant causative factors of pregnancy loss. Our goal was to investigate the differences of chromosomal abnormality between different conception modes in miscarried products of conception (POCs). Methods A retrospective study included 129 miscarried POCs from 81 women undergoing assisted reproductive technology (ART) and 48 spontaneous pregnant (SP) women during March 2019 to March 2021 in Renmin Hospital of Wuhan University. Subgroups were divided according to age, fertilization method, types of embryo transfer. The profiles of cytogenetic abnormalities in the miscarried POCs were measured via next-generation sequencing. Results The total chromosomal abnormality rate was 65.1%. No significant difference was found in the rate of chromosomal abnormalities between ART and SP group (63% vs. 68.8%, P = 0.505). However, the rate of chromosomal structural abnormalities was significantly increased in ART group (P = 0.02). There was no significant difference in the rate of chromosomal abnormalities when stratified by age (62.9% vs. 71.9%, P = 0.355) and frequency of abortion (66.7% vs. 63.2%, P = 0.678). In the patients aged P = 0.006). In the patients aged ≥ 35 years, numerical chromosomal abnormality was predominated in both groups (P = 0.655). Compared with the IVF fertilization subgroup, microdeletion was more frequent in the ICSI fertilization subgroup (80% vs.28.6%, P = 0.013). The rate of chromosomal abnormality in the fresh embryo transfer group was significantly higher than that in the frozen embryo transfer group (92.3% vs.50%, P = 0.0001), especially the structural abnormality (46.2% vs. 15.4%, P = 0.016). Conclusion Chromosomal abnormality is the main cause of spontaneous abortion, whether in SP or in ART patients. The incidence of structural abnormalities in miscarried POCs from ART patients was significantly increased and fresh cycles had higher frequency of chromosomal abnormalities than the frozen cycles, hints us that “freezing all” should be considered in the process of assisted reproduction if encountered hyper ovarian stimulation, to avoid the negative effect of high estrogen environment on embryo development.

The genus Dioscorea comprises of economically-important plant species known for their starch throughout the world; it is also a major source of food and income in Africa. The most important Dioscorea species cultivated and consumed in the West Africa belt include D. cayenensis, D. rotundata and D. alata. The plant materials used in this study were collected from Omu-Ekiti, Oye Local Government of Ekiti State, Nigeria using the On Farm Participatory Method (OFPM). Mitotic chromosome studies were carried out on three species viz, Dioscorea alata (‘ewura’), D. cayenensis (‘igangan’) and D. rotundata (‘areyingbakumo’, ‘gaungaun’, ‘ikumo’, ‘ogunmole’ and ‘sandpaper’). Mitotic chromosome studies were carried out on each of the cultivars using the root tip squash method made in modified Orcein stain (FLP-Orcein). Dormant tubers were cut to mini-setts and placed in carbonised rice husk for rooting. This study reports the basic chromosome number of x = 8, i.e. 2n = 4x =32 (D. alata), 2n = 4x =38 (D. rotundata) and 2n = 8x = 68 (D. cayenensis) for Dioscorea suggesting that both D. rotundata and D. cayenensis are aneuploids.

Background: Myelodysplastic syndromes (MDSs) are a heterogeneous group of clonal hematopoietic neoplasms, roughly half of which harbor cytogenetic abnormalities with diagnostic, prognostic, and therapeutic significance. Fluorescence in situ hybridization (FISH) for the most commonly seen abnormalities (5/5q, –7/7q, +8, and –20/20q–) is routinely performed alongside conventional cytogenetics (CC) in the evaluation of suspected MDS despite conflicting reports of its relative contribution compared to CC alone.Objectives: To assess the additional diagnostic and prognostic value of performing concurrent FISH versus CC alone in cases of suspected MDS.Materials and Methods: A total of 127 bone marrow samples submitted to our cytogenetic laboratory with a presumptive diagnosis of MDS were evaluated by concurrent CC and an MDS FISH panel.Results: CC was used as the gold standard method with 100% sensitivity in detecting suspected MDS-associated cytogenetic abnormalities. FISH alone had a sensitivity of 76%, whereas CC alone achieved a sensitivity of 97%. The addition of FISH did not change the diagnosis nor change the Revised International Prognostic Scoring System score in any patient. Moreover, in 12 cases identified as positive by both CC and FISH, CC identified multiple chromosomal aberrations of clinical significance not interrogated by the FISH probe panel.Conclusion: CC alone is sufficiently sensitive in detecting suspected MDS-associated cytogenetic abnormalities that influence clinical decision-making. Routine FISH testing does not provide a significant increase in test sensitivity when an adequate karyotype is obtained. Therefore, FISH testing is best reserved for suspected MDS cases lacking sufficient metaphases.

Chromosomal microarray analysis (CMA), recently introduced following conventional cytogenetic technology, can detect submicroscopic copy-number variations (CNVs) in cases previously diagnosed as “cytogenetically benign”. At present, rapid and accurate chromosomal analysis is required in prenatal diagnostics, but prenatal CMA is not widely used due to its high price and long turnaround time. We introduced a new prenatal screening method named digital karyotyping (D-karyo), which utilizes a preimplantation genetic test for the aneuploidy (PGT-A) platform. First, we conducted a preliminary experiment to compare the original PGT-A method to our modified method. Based on the preliminary results, we decided to implement the modified strategy without whole-genome amplification (WGA) and combined it with three analytical software packages. Next, we conducted a prospective study with 824 samples. According to the indication for invasive tests, the D-karyo positive rates were 2.5% and 5.0%, respectively, in the screening positive group with NT ≥ 3.5 mm and the group with fetal abnormalities by ultrasound. D-karyo is a breakthrough modality that can detect submicroscopic CNVs ≥ 1.0 Mb accurately in only 10.5 h for 24 samples at a low cost. Implementing D-karyo as a prenatal rapid screening test will reduce unnecessary CMA and achieve more accurate prenatal genetic testing than G-banding.

The Amazon aquatic ecosystems have been modified by the human population growth, going through changes in their water bodies and aquatic biota. The spectacled alligator (Caiman crocodilus crocodilus) has a wide distribution and adaptability to several environments, even those polluted ones. This study aimed to investigate if a Caiman species living in urban streams of Manaus city (Amazonas State, Brazil) is affected by environmental pollution. For that, it was used classical and molecular cytogenetic procedures, in addition to micronucleus and comet assays. Although the karyotype macrostructure remains unaltered (2 n = 42 chromosomes; 24 t + 18 m/sm; NF = 60), the genotoxic analysis and the cytogenetic mapping of repetitive DNA sequences demonstrated that polluted environments alter the genome of the specimens, affecting both the chromosomal organization and the genetic material.

Pentasomy X is a rare syndrome with variable phenotype, that affects females with characteristic clinical features such as severe mental retardation with delayed speech, short stature, facial dimorphism’s, osseous, articular/skeletal/limb abnormalities, and congenital heart defects. Clinical course of the disease seems to be adverse as there has been no evidence of life till adulthood. This case study was of one-month-old girl referred for cytogenetic evaluation that revealed 49,XXXXX karyotype, indicating Pentasomy X syndrome. Studies have mentioned meiotic successive nondisjunction errors in maternal meiosis or combined maternal and paternal origin as a mechanism for Pentasomy X formation which has been supported by genotyping studies using Short Tandem Repeats (STR) X-linked polymorphic markers. An early restricted fetal growth and movements along with increased nuchal fold in pregnancy could suggest referral to prenatal karyotyping studies. Prenatal diagnosis of Pentasomy X syndrome is a challenge due to absence of advanced maternal age and maternal screening markers along with subtle nonspecific Ultrasonography (USG) abnormalities that are detected late in the pregnancy. Hence, there is a strong need of Non Invasive Prenatal Screening (NIPS) with clinical coverage of sex chromosomes in routine pregnancy management along with 3D high resolution USG evaluation as a mandatory workup to rule out Pentasomy X irrespective of advanced maternal age. Management frame work through genetic counseling help patients to adapt to the challenging diagnosis and early interventions for patient management.

While roughly 30% of all women experience a spontaneous miscarriage in their lifetime, the incidence of recurrent (habitual) spontaneous miscarriage is 1 – 3% depending on the employed definition. The established risk factors include endocrine, anatomical, infection-related, genetic, haemostasis-related and immunological factors. Diagnosis is made more difficult by the sometimes diverging recommendations of the respective international specialist societies. The present study is therefore intended to provide a comparison of existing international guidelines and recommendations. The guidelines of the ESHRE, ASRM, the DGGG/OEGGG/SGGG and the recommendations of the RCOG were analysed. It was shown that investigation is indicated after 2 clinical pregnancies and the diagnosis should be made using a standardised timetable that includes the most frequent causes of spontaneous miscarriage. The guidelines concur that anatomical malformations, antiphospholipid syndrome and thyroid dysfunction should be excluded. Moreover, the guidelines recommend carrying out pre-conception chromosomal analysis of both partners (or of the aborted material). Other risk factors have not been included in the recommendations by all specialist societies, on the one hand because of a lack of diagnostic criteria (luteal phase insufficiency) and on the other hand because of the different age of the guidelines (chronic endometritis). In addition, various economic and consensus aspects in producing the guidelines influence the individual recommendations. An understanding of the underlying decision-making process should lead in practice to the best individual diagnosis and resulting treatment being offered to each couple.

Karyotyping is one among the culling parameter used for taking up culling decisions. Cytogenetic screening of breeding bulls has been recommended to screen for chromosomal abnormalities before semen production in artificial insemination. The chromosomal analysis of a Holstein Friesian crossbred bull revealed the presence of acrocentric Y-chromosome, which was further confirmed by CBG-banding. The shape of the Y-chromosome determining that male line used for crossbreeding was from indigenous origin. Karyotyping is a best and reliable technique for the identification of crossbred calves born to the indigenous bulls.

The chromosomes of triploid parthenogenetic Helophorus orientalis Motschulsky, 1860 are described from material from two localities in Heilongjiang, China. 3n = 33. All the chromosomes have clear centromeric C-bands, and in the longest chromosome one replicate appears to be consistently longer than the other two. The chromosomes of additional triploid parthenogenetic H. brevipalpis Bedel, 1881, from Spain and Italy, are described. In one Italian population one of the autosomes is represented by only two replicates and another appears more evenly metacentric than in material from Spain and the other Italian locality. Parthenogenetic and bisexual specimens of H. orientalis are illustrated, along with Pleistocene fossil material. Parthenogenetic H. brevipalpis is also illustrated. Parthenogenesis in Hydrophiloidea is discussed. It appears to be rare and, in all cases has been detected by chromosomal analysis of populations in which males are unexpectedly scarce. Parthenogenesis is suspected in Helophorus aquila Angus et al., 2014, from northern Qinghai (China), which should be verified in further studies.

In this work we analyzed the karyotype of Rhinella jimi (Stevaux, 2002) (Anura, Bufonidae) from Picos (Piauí) in Northeastern Brazil. The chromosomes were examined using classical cytogenetic approaches (Giemsa, C-banding, and Ag-NOR staining). This species has 2n = 22 chromosomes, all metacentric or submetacentric. Heterochromatic segments were visualized at the centromeric region and the nucleolus organizer regions (NOR) were restricted to terminal regions of the short arms in pair 7. There was no evidence of heteromorphic sex chromosomes. The chromosomal analysis of R. jimi allowed us to identify a karyotype that is similar to many other species of Rhinella, in which the diploid number remains unchanged and without evidences of structural rearrangements., Asociación Herpetológica Argentina

The present studies describe Chromosomal aberration effects of electrofishing, which were evaluated on Poecilia latipinna, located in Shat Al-Arab river in Al-garmma city (south of Iraq). The electrofishing derive used in work is simulated to that used in the commercial fishing. The apparatus generates voltage ranged from 40 to 280 volts. Nine bearers of Poecilia latipinna sailfin molly fish in chromosomal analysis were divided into three treatments. The first were a control, the fishes of the second were exposed to 110 volts (10 seconds), and final groups were exposed to 110 volts (15 seconds). Mitotic index of the electrofishing with a control for each group decreased with increasing exposed time in somatic cell kidney tissue of Poecilia latipinna. The chromosome aberration analysis revealed a significant increase in the most frequent aberration per 150 metaphase in analyzed groups (1.33 in T1 groups, 39.33 in T2 groups) was chromosome break, fragment, range chromosome, Sticky chromosome mean, were higher in comparison to non exposed electrical shock fishing groups (control groups T1). At the same time, it showed a higher positive correlation of total chromosome aberration frequencies between T1 and T2 groups, while, all fishes died in T3 groups. According to our results, we represented the first record in Iraq.

Background: Ring Chromosome 18 is a rare chromosomal disorder with loss of geneticmaterial from one or both ends of the 18th chromosome and fusion of the chromosomalends to form a ring. Associated symptoms and physical features may beextremely variable.Case report: we observed a 2.5 year old girl with the features typical for r(18)carriers additionally manifested a Tetralogy of fallot. Chromosomal analysis on thebasis of G-banding technique was performed. Chromosomal investigation appeared as46, XY,r(18) (p11.31q22.3).Conclusion: This information may help healthcare team make diagnosis a personwith ring 18.

Intellectual disability (ID) is a heterogeneous condition, affecting 1–3% of general population. In this study, karyotype analysis was performed in 33 children with idiopathic ID in a hospital with limited laboratory facilities to determine the value of karyotype analysis as a first step test in children with idiopathic ID. Thirty-three patients with idiopathic ID were included in the study. Giemsa-trypsin-Leishman (GTL) banding karyotype resolution at a standard resolution of 550 bands was performed to determine whether the patients had microdeletion/microduplication by using of conventional karyotype analysis. Of 33 children, seven (21.2%) showed various chromosomal changes. Polymorphisms including 46,XX,1qh+; 46,XX,1qh+,1qh+; 46,X,add(Y),q12; 46,XY,21ps+ and 46,XX,1qh+ were diagnosed in five children. Inversion [46,XY,inv9(p12q13)] and inversion and polymorphisms [46,XY,inv9(p12q13),13ps+] were diagnosed in two children, respectively. We believe that inv(9)(p12q13) is a benign variant. In conclusion, our findings showed that the karyotype analysis was not helpful to determine etiology in children with idiopathic ID, probably because of the low patient number in our study.

This study investigated the potential genotoxic effects of the fungicide Tango® Super using methods of conventional cytogenetic analysis, fluorescence in situ hybridization (FISH) and detection of DNA fragmentation in bovine lymphocytes. After exposure of two donor cell cultures to several concentrations of fungicide (0.5, 3.0 and 15.0 mg.ml-1 for conventional cytogenetic analysis; 0.5 and 3.0 mg.ml-1 for FISH) we detected the insignificant occurrence of chromosome and chromatid breakages. In both donors we observed a significant decrease in mitotic index (MI) percentage with increasing concentrations of fungicide (P < 0.01; P < 0.001), which indicated a cytotoxic effect of the preparation. Electrophoretic analysis of DNA fragmentation in lymphocytes exposed to increasing concentrations (0.5; 1.5; 3.0; 6.0 and 15.0 mg.ml-1) of this preparation showed its ability to induce formation of fragments, which is a characteristic manifestation of the last stage of apoptosis.

Brain atrophy is one of the congenital malformations that increased recently among neonatal children in Iraq. Brain atrophy (BA) which means a decrease in size of brain or cells number caused by different factors one of them genetic factors. Since we lack the genetic bases on such cases, the objective of the study was to shed light on the impact of genetic factors causing brain atrophy. Chromosomal analysis was used to determine the genetic affecting alterations that may involve in brain atrophy. G-banding technique was used to diagnose chromosomal abnormalities in the thirty cases and their families. The results revealed different chromosomal abnormalities such as break, translocation and inversion (rearrangements) caused BA in children while their parents seemed with normal phenotype. In addition of deletion in the short arm of chromosome 6 which did not exceed globally 30 cases until 2005 was recorded. This deletion had a lethal effect on the new born baby with BA. Interestingly, this study showed a relationship between chromosome 6 and its effect on the safety of the brain.

Parkinson’s disease (PD) is a complex neurodegenerative disorder, where its prevalence do vary geographically. We observed a 54-year-old male who belongs to a tribal community from Tamil Nadu, India, was diagnosed with PD. Occupationally, he was a farmer exposed to pesticides in agricultural fields. The family history revealed that the patient's parents had a consanguineous marriage and that his father showed symptoms of tremor and bradykinesia along with memory loss. We initially examined the family history and assessed Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (HY) scaling which showed low UPDRS rate and stage 3 HY scaling. Further, we conducted the dopamine transporter imaging which revealed decreased tracer binding in the left caudate with negligible uptake in the left putamen. Furthermore, we found that the patient had low levels of uric acid (2.2 mg/dL) with SNCA mutation (A53T). Environmental factors such as pesticides and smoking might have contributed SNCA mutation with low levels of uric acid. Also, the chromosomal analysis using fluorescent in situ hybridization (FISH) technique showed 22q11.2 deletion which is very uncommon in late-onset PD. In conclusion, this case study revealed that there is a humongous role of both environmental exposures and genetics in the onset of the PD.

The conditions of storage, cultivation and maintenance of microbial cultures should preserve the microbiological homogeneity, phenotypic and genotypic characteristics to ensure better reproducibility of metabolic production. To evaluate the influence of the storage condition on the composition of cell fatty acids, genetic profile and biochemical characteristics of Xanthomonas campestris pv. mangiferaeindicae IBSBF 2103, as well as, to identify its relationship with the yielding and viscosity of the xanthan gum produced, this study monitored the strain preserved in two simple and widely used conditions, ultra-freezer (−80 °C) and refrigeration (3–8 °C) during 5 months. Were identified and quantified 13 fatty acids. The cells preserved at −80 °C showed more stable concentration of all fatty acids, producing more xanthan gum and with higher viscosity. The chromosomal analysis obtained with the enzyme XbaI revealed 17 distinct fragments with maximum size of 485 kilobases, without variations among the subcultures maintained in both storage conditions. The X. campestris pv. mangiferaeindicae subcultures preserved at −80 °C showed less pronounced phenotypic variations, which had positive influence in the qualitative and quantitative characteristics of the xanthan gum produced.

Background: Multiple Sclerosis disease is a demyelination process which interferes with the neuronal signal transmission, thus leading to different cognitive and physical dysfunctions like optic neuritis, motor, sensory and coordination problems. Recently many researches have been directed toward studying the relation between some genes and multiple sclerosis. Among the important genes to be studied in multiple sclerosis is the forkhead box P3 gene expression.Objectives: The aims of the present work were to study the expression of forkhead box P3 gene by real time polymerase chain reaction, and to perform chromosomal analysis on the multiple sclerosis patients peripheral blood lymphocytes.Patients and methods: A case-control study was performed using real time polymerase chain reaction technique to measure the relative expression of forkhead box P3 gene in peripheral blood leukocytes of 25 newly diagnosed untreated multiple sclerosis patients and comparing them with that of 25 apparently healthy controls, in addition to performing chromosomal analysis on multiple sclerosis patients peripheral blood lymphocytes.Results: Significant down-regulation in forkhead box P3 gene was detected in multiple sclerosis patients in comparison to controls. Chromosomal analysis that was performed for multiple sclerosis patients revealed normal results.Conclusion: Multiple sclerosis is associated with significant change in forkhead box P3 gene expression that can be measured by real time polymerase chain reaction technique. Furthermore, multiple sclerosis is not associated with gross chromosomal abnormalities.