Cytogenetics Essays

Eyewitness testimony in children (Memory) Eyewitness testimony is something which describes a person’s observations about any event or incident. Remembering something and recalling it later is possible because of memory. So, the ability of an organism to record information about things or events with the facility of recalling them later at will or when asked is memory. Eyewitness testimony in children is a part of their reconstructive memory according to “Elizabeth Loftus”. Reconstructive memory

Triple-X Syndrom By:Alli Wildman There are an estimated 12 million Americans that have a genetic disorder. A typical male’s sex chromosomes is one X and one Y and a typical female’s sex chromosome is two X’s. Triple-X syndrome (Trisomy X) is when a female’s sex chromosome to have three X's instead of the normal two. Trisomy X’s symptoms are diagnosed to what causes this disease. Trisomy X is not inherited. Doctors will prescribe or suggested treatment by going to counseling or getting help with school

The karyotype pictured is what happens when there is a full or extra pair for the chromosome 21 and that means the person has Down syndrome. Down syndrome is a genetic defect that causes developmental delays and specific physical characteristics. Some of the physical characteristics are low muscle tone, small body height, upward slanted eyes, and oddly a single deep crease across the center of the palm. Medically 40-50% have congenital heart defects, 65% have hearing issues, and 50% have vision

A 62 year old white male named Wayne D. had been healthy until recently, when he experienced significant discomfort in his abdomen that left him feeling full after eating less than usual and he felt tired all time. After consulting his physician, it was uncovered that Wayne D. had indeed lost weight, that he appeared pale, and that he had developed splenomegaly. The physician decided to order a complete blood count (CBC) with differential as well as the following chemistry tests: uric acid, lactate

is found. Chronic phase, accelerated phase & blast crises are 3 phases of CML.Overall 90% of patients with CML Philadelphia chromosomes are present as a result of a t (9; 22) reciprocal translocation. This chromosomal abnormality is detected by cytogenetics, FISH (fluorescent in situ hybridization). BCR -ABL contains a protein that plays an important role in development of leukemia & it is BCR-ABL oncogene. Imatinib & Nilotinib are used for its treatment. Imatinib mesylate (Glivec, Novartis), a potent

males, because it is only associated on the X chromosome and it is recessive, hence females will not be affected by this disease only males. Mutations on the hypoxanthine phosphoribosyltransferase 1 gene or HPRT1 causes Lesch-Nyhan Syndrome. The cytogenetic position of HPRT1 is Xq26.1. The gene usually encodes the protein called transferase,

fertilization or is past on from either effected parent. Symptoms range in intensity and assortment, with the most common of symptoms (eye colobama and anal atresia) only occurring in half known cases. Diagnosis is done most commonly through FISH and cytogenetic blood testing. Prescription drugs and surgeries can help lessen the effects of CES, but all treatment is symptomatic and only is aimed toward the symptoms. There is no known cure or prevention for CES First catalogued in 1898 within the JAMA Ophthalmology

Molecular Diagnostics of Klinefelter Syndrome Submitted to: Tarana Sharmin Lecturer Department of Genetic Engineering & Biotechnology Authored by: Hasan Al Reza Roll: 10 Session: 2011-2012 Department of Genetic Engineering & Biotechnology University of Dhaka Date: 19th April, 2015 Klinefelter Syndrome Klinefelter’s Syndrome (KS) also known as 47, XXY is a sex chromosomal abnormality. It is a form of aneuploidy whereby the male patient has an extra X chromosome. The primary hallmark of

Are the stages of chronic myelogenous leukemia important? They are, because the doctor must know at which stage the disease has developed to determine the therapy the patient will undergo. For instance, the treatment in the first stage will be different than the second stage depending on different factors. The stages of this disease are considered as phases instead, which are three phases. The phases of CML are chronic phase, accelerated phase, and blastic crisis. The first phase is the chronic

Pradar Willi and Angleman Syndrome Website Lecture Group 3 Background The Chromosome Chromosomes are located in the nucleus of cells. They are what make up the genetic information that allows all organisms to be unique. Chromosomes consist of Deoxyribonucleic acid that are bundled up tightly to form the larger chromosome structure. In human cells there are usually 46 chromosomes. 23 inherited from the father called paternal and 23 from the mother called maternal. On the 46 chromosomes there are

Leukemia is a malignant cancer in which abnormal cancer cells are produced in the bone marrow (American Cancer Society, 2014) . Bone marrow is the soft, inner part of bones, such as the skull, shoulder blades, ribs, pelvic (hip) bones, and backbones. The bone marrow consists of blood stem cells, fat cells, mature blood-forming cells, and tissue that support cell growth. Leukemia is the production of abnormal white blood cells- which fight off infections (MedicineNet, 2015). In the bone marrow,

pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations (fragile X syndrome) or that involve key epigenetic regulatory factors (Rett syndrome). Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally

Cytogenetics [si″to-jĕ-net´iks] involves techniques such as Karyotyping (G-Banding): A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term also used for the complete set of chromosomes in a species or an individual

SEMINAR REPORT OF PRENATEL DIAGNOSIS: TECHNIQUES AND APPLICATIONS Submitted to: Submitted by: Date: Centre for Human Genetics School of Health Science ACKNOWLEDGEMENTS In the course of present work it has been my privilege to receive help and assistance from many quarters. I take great pleasure in acknowledging here, my debt to them. I am deeply indebted to my Guide Dr. Preeti

ACUTE MYELOID LEUKEMIA If a doctor insists that a patient has leukaemia, more drafted measures should be taken into consideration. Measures which include the use of samples taken from the blood because it is not often the case where signs and symptoms might suggest that the patient have leukaemia, other measures include the results of the physical exam made by the doctor and the samples of cells from the blood, the bone marrow and the spinal fluid. DIAGNOSIS Before a patient can be diagnosed with

TERMINOLOGY CLINICAL CLARIFICATION 6 • Ambiguous genitalia (also called disorders of sex development or DSD) is a diverse catalog of congenital anomalies that encompasses genotype and phenotype irregularities, endocrine abnormalities and enzymatic dysfunctions in the organs that express human sexual identification. These include male and female pseudohermaphroditism, gonadal dysgenesis, and true hermaphroditism. CLASSIFICATION 4 • Formal taxonomy of disorders of sex development (note that some

Recurrent implantation failure (RIF) and recurrent pregnancy loss (RPL) are the major problems faced by infertile couples undergoing in-vitro fertilization1.Early embryonic mortality is very high in humans, and it was analysed that the principal cause for failed pregnancy is an error of implantation2,3,4.The incidence of recurrent pregnancy loss should be approximately 1 in 300 pregnancies. The etiologies for RPL are parental chromosomal abnormalities, uterine anomalies, endocrine dysfunction, autoimmune

Genes are the basic hereditary units which consist of DNA sequences that encode information for the synthesis of specific proteins. These genes also determine the phenotypic expression as well as the personality expression and behavioral patterns. The abnormalities in an individual’s genome are known as genetic disorders which are either inherited or caused by mutation in the pre-existing genes (Shiel, 2010). Genetic disorders can be categorized into four classes which are single-gene disorder, multi-factorial

ACUTE LYMPHOBLASTIC LEUKEMIA BACKGROUND Acute lymphocytic or lymphoblastic leukemia (ALL) is an aggressive cancer of the bone marrow, specifically affecting the immature lymphocytes that is fatal within weeks if left untreated. Leukemia cells are aggressive, rapidly reproducing, and do not mature appropriately. There are two types of ALL based on the affected lymphocytes, B lymphocytes or T lymphocytes. B lymphocytes are important to the immune system as they protect the body from invaders (e

INTRODUCTION The zebra finch (Taeniopygia guttata) is a model organism in neurobiology (reviewed in Mello 2014) and is the second bird to have its genome sequenced (Warren et al 2010). In this species, the existence of a polymorphism for a putative pericentric inversion in the sixth autosome was described in wild birds and also in a colony kept for research purposes (Christidis 1986; Itoh and Arnold 2005). As a consequence of this rearrangement, this chromosome exists in two alternative morphs: one