PPT-Chromosome Analysis of Hematopoietic and Lymphoid Disorders

41 Learning ObjectivesLevel I At the end of this unit of study the student should be able to Define chromosome and mitosis List the basic steps of cytogenetic analysis and select the most appropriate type of specimen for analysis of suspected constitutional and neoplastic acquired disorders. 1 Hematopoietic and Lymphoid Neoplasm Coding ManualEffective with Cases Diagnosed 1/1/2010 and ForwardPublished January 2015In Appreciation Editors: Jennifer Ruhl, MSHCA, RHIT, CCS, CTR, NCI SEERMarga A visual representation of how a trait is inherited . through generations. . . Earliest. generations are at the . top. .. Each row is . one generation. . . Circle. = female, . Square. = male. Dark shading . Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. Overview. Serious health issues can occur when there are problems with an organisms DNA.. Objectives:. 1. What is a karyotype? . 2. What is nondisjunction?. 3. Distinguish between the . chromosomal alterations. What happens if mistakes occur?. Nondisjunction. When chromosomes fail to separate in meiosis. Lead to chromosomes disorders. Karyotype. Is an organized profile of a persons chromosomes. Two chromosomes specify gender:. Division of Diagnostic Genomics -CytogeneticsLaboratory975 West Walnut Street IB265Indianapolis IN 46202-5251Tel 317-274-2243Neoplastic Chromosome Analysis Bone Marrow Peripheral Blood Bone Coreor Tu .. Most common X-linked disorders.. Usually . expressed only in males.. Rarely, due to random X-inactivation, a female will express disease, called manifesting . heterozygotes. .. Pattern Of Inheritance:. Mohanad. Mahdi Al-. Hindawi. . Introduction . A . gene. (from ancient Greek: . gonos. : . offspring. , procreation) is a locus (or region) of DNA which is made up of nucleotides.. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. . Chromosomes. Homologous chromosomes. Gene. Exon. Introns . Locus (loci). Alleles. Heterozygous alleles. Homozygous alleles. Genetic . Pathology. Genetic . pathology deals with the diseases that have genetic origin. It is estimated that . Rapisardo. Horn, PhD, DABMGG. Assistant Director, Duke . Cytogenetics. Laboratory. Assistant Professor, Department of Pathology. sarah.horn@duke.edu. References. Robbins Basic Pathology, Chapter 6. Over the last few decades, a significant transition has taken place in the etiology of diseases affecting mankind. Environmentally related disorders have decreased & genetic disorders & non-communicable disorders have become a major cause of morbidity and mortality. 23. Learning Objectives—Level I. At the end of this unit of study, the student should be able to:. Define and differentiate the terms . neoplasm. and . malignant. and identify hematopoietic disorders that can be included in each category.. Prepared by Rania Naoufal, M.D.. Learning Objectives. Chromosome structure. Chromatin. Chromatin exists in several alternative configurations, depending on what that particular stretch of DNA is doing. TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS. Congenital. Allele. Gene locus. Gene mutation. Genotype. Phenotype. Homozygous. Heterozygous. Polymorphism. Gene penetrance. Gene expression. CAUSES OF BIRTH DEFECTS.