Form Of Chromosomal Abnormality Research Articles

The effect of nuclear radiation on mutation chromosomes of shallot cells (Allium cepa)

Environmental pollution by nuclear radiation has been known to endanger chromosomes. This research aims to analyze the abnormal forms of root shallot chromosomes which are irradiated by nuclear with various levels of radiation. This is a quasi-experimental research. The treatment group was given radiation through nuclear reactors at a dose of 11.88 rad, 8.69 rad, 2.01 rad, 1.28 rad, 1.15 rad, 0.26 rad, 0.00034 rad, 0.00016 rad, while the control group was without radiation. The staining of the preparations was carried out using Acetocarmine 2%. Reading preparations using a microscope with a magnification of 400x. The results of the study showed the emergence of various forms of chromosomal abnormalities. Abnormal forms that appear are pole to pole arrangement chromosome, unequal separation, binucleate cell, pulverized ball metaphase, sticky anaphase with broken bridge, chromosome rosette, abnormal chromosome fragment, early cell plate formation at late anaphase, sticky metaphase, binucleate cell with a bridge, chromosome fragments, binucleate cells, chromosome gaps, ball anaphases with a diagonal scattered anaphase bridge, and aberrant grouping at anaphases in a giant cell. The novelty of this preliminary study is that chromosomal abnormalities in the onion roots were found even in the very low radiation group. Large-scale research is required and their effects if eaten by animals or humans need further research.

GAMBARAN PROSES PENERIMAAN DIRI IBU DENGAN ANAK DOWN SINDROME

Parents put their hopes in their children who will be born. When a child is born with conditions that are not as expected, this causes an emotional reaction in parents, especially the mother as the main caregiver for children and people who give birth to children in the world. The existence of a diagnosis of Down syndrome in children, mothers feel lost hope and their role will change. According to Fidler, Down syndrome is known as a form of chromosomal abnormality that causes developmental delays, mild to severe mental retardation and physical abnormalities. Finally, the mother faces the terrible reality that her child has special needs. This is a situation that is difficult for mothers to accept and needs to go through a process to be able to achieve self-acceptance. If the mother accepts herself with the condition of having a Down syndrome child, it can help the child to grow and develop properly. Therefore, researchers want to know the process of self-acceptance of mothers with children with Down syndrome.
 This research uses a qualitative approach and data collection is carried out using the interview method. Participants in this study were 3 mothers who had children with Down syndrome at the age of 30-45 years. Through interviews, researchers explore the expectations of parents about children, events during pregnancy, childbirth and raising children. In addition, researchers also dig data about the process experienced by mothers to achieve self-acceptance. The analysis conducted on each participant was carried out with the thematic analysis method.
 The results showed that the three participants had a process of self-acceptance in accordance with the phase initiated by Duncan and Moses, but there were several different stages. It takes many years for mothers to be able to complete the emotional stages and feelings that emerge can overlap. When the mother has reached self-acceptance, it is still possible to experience a setback to the previous phase. Factors that influence, among others, hope, ignorance of Down syndrome, the economy and support from the surrounding environment.

Prenatal diagnosis of rare form of chromosomal abnormality: double trisomy 48,XXX,+18 in the first trimester in association with spina bifida

The case of prenatal diagnosis of neural tube defect at 11+5 weeks of gestation is presented. Chorion villus sampling performed. Karyotyping revealed double trisomy (48,XXX,+18). Termination of pregnancy was performed at 13 weeks of gestation.

Application of Veterinary Cytogenetics in Domestic Animals: A Review

Cytogenetics is the study of chromosomes; their structure and properties, chromosome behavior during cell division, their influence on traits and factors which cause changes in chromosomes. Veterinary cytogenetics is the application of cytogenetics to clinical problems that occur in animal production. It has been applied to understand problems such as infertility and its types, embryonic and fetal death, abnormality in sexual and somatic development and hybrid sterility and also prenatal sex determination and other forms of chromosomal abnormalities. These are achieved through conventional and banded karyotyping techniques and molecular cytogenetic techniques. Although conventional techniques are still useful and very widely applied, the nature of cytogenetics has gradually changed as a result of advances achieved in the molecular cytogenetic techniques for example fluorescent in situ hybridization and array-based techniques. These changes are evident in both molecular diagnostics and basic research. The combination of conventional and molecular cytogenetics has given rise to high resolution techniques which have enabled the study of fundamental questions regarding biological processes. It enables the study of inherited syndromes, the mechanisms of tumorigenesis at molecular level, genome organization and the determination of chromosome homologies between species. It allows the ease with which animals are selected in breeding programs and other important aspects of animal production. In this paper we discussed a number of techniques employed in cytogenetics and their methodologies, and recommend where future focus should be for the benefits of animal production.

Cytogenetic and Molecular Abnormalities in Myelodysplastic Syndrome

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematological disorders characterized by ineffective hematopoiesis which causes peripheral cytopenias and a risk of progression to acute myeloid leukemia. Although various forms of chromosomal abnormalities have been detected in approximately 50-60% of patients with de novo MDS and in up to 80% of patients with therapy-related MDS, their molecular significance for pathogenesis and disease progression is not yet fully understood. Recent technical advances in molecular biology have disclosed more accurately details of pathological chromosomal and molecular aberrations in MDS. Such details could not be identified with conventional cytogenetical techniques, including G-banding. In particular, with recent technical advances in comparative genome hybridization or single nucleotide polymorphism array technology, several candidate genes for the pathogenesis of MDS have been identified, which are located in minimally deleted or uniparental disomy segments. Moreover, epigenetic deregulation of gene expression is also likely to be involved in the pathogenesis of MDS. Accordingly, in addition to classical oncogenic abnormalities, such as p53 abnormalities, or NRAS mutation, various molecular abnormalities, such as TET2, RPS14, or c-CBL, have been identified and/or proposed as the novel candidates for molecular basis of the development and progression of MDS. A better understanding of the causative molecular events underlying MDS pathogenesis is essential for the development and establishment of a more effective treatment resulting in a complete cure for MDS. We here review current knowledge regarding the molecular significance of chromosomal and genetic aberrations in MDS and the proposed molecular mechanisms of action of new agents for MDS, such as lenalidomide or azacitidine.

Congenital Heart Disease in Down Syndrome

Trisomy 21, Down syndrome, is one of a number of chromosomal abnormalities associated with congenital heart disease. Recent studies indicate that approximately 5% of all congenital heart defects are associated with some form of chromosomal abnormality, the majority of which are Down syndrome. Reports of the incidence of congenital heart disease in patients who have Down syndrome have varied, but it is commonly accepted to be 50%. Endocardial cushion defect and ventricular septal defects both have been reported as the "most common," but the majority of investigators accept the endocardial cushion defect as being the more frequent. The association between endocardial cushion defects and Down syndrome is so striking that when an endocardial cushion defect is diagnosed in an infant, the possibility of Down syndrome always should be considered.