PPT-Karyotypes and Chromosome Disorders

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. Also its possible for otherwise healthy people to develop severe illness so any one concerned about their illness should consult their doctor There are emergency warning signs that should signal anyone to seek medical care urgently Emergency Warning BY: Brandon. a. nd . Kellen. The odds of having a child with a chromosome disorder/syndrome is 1 in 160 live births. (.00625%). Approximately half of these births will end up being a miscarriage. . The bacterial chromosome is a double-stranded, circular DNA molecule associated with a small amount of protein. Eukaryotic chromosomes have linear DNA molecules associated with a large amount of protein. A regular human cell has 46 chromosomes: 44 autosomes, which come in pairs, and 2 sex chromosomes, which specify gender (XX for female and XY for male).. The pairs of autosomes are called "homologous chromosomes." One of each pair came from mom and the other came from dad. Homologous chromosomes have all of the same genes arranged in the same order, but with slight differences in the DNA sequences of the genes.. 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. GENOMICS 7 264-269 1990 SUSAN A LEDBETTER MARGARET R WALLAcEt FRANCIS S CoLmst AND DAVID H LEDBETTER institute for Molecular Genetics Baylor College of Medicine Houston Texas 77030 and tHoward Hughes Polydactyly. Down Syndrome. Hemophelia. Progeria. Hypertrichosis. Sickle Cell Anaemia. INTRODUCTION. What is genetic diseases/disorders?. The human body is composed up of cells , each one specializing a particular function like sensing light, smelling . Aneuploidy. :. Variation of a certain chromosome with in the set.. Hyperploidy. : gain of chromosome. Trisomy 2n+1. Double trisomy 2n+1+1. Tetrasomy. 2n+2. Hypoploid. y. : loss of chromosome. Monosomy 2n-1. 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. (Chapters 6 and 3). . Presented by Dr. Laurie M. Erickson. Chair of the Department of Health Sciences. Blitstein Institute of Hebrew Theological College. Chicago, IL, USA.. 1. 6.1 Genome Size. Genome:. Human Chromosomes. Human chromosomes. 46 total, 23 pairs. 22 pairs of autosomes. 1 pair of sex chromosomes. Male vs. female. Human Chromosomes. Human chromosomes. 46 total, 23 pairs. 22 pairs of autosomes. 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. Chromosome 2A. Chromosome 2B. Chromosome 3A. Chromosome 3B. Chromosome 4A. Chromosome 4B. Chromosome 5A. Chromosome 5B. Chromosome 6A. Chromosome 6B. Chromosome 7A. Chromosome 7B. Chromosome 8A. Chromosome 8B. Presenter: . R2. . 張家甄. Supervisor: . Fellow. . 楊思婷. 醫師. Outline. PART ONE: BASIC . CONCEPTS. 2. . Chromosome . Analysis. INTRODUCTION. CLASSICAL CYTOGENETIC . ANALYSIS. MICROARRAY .