PPT-Genetic and Chromosomal Abnormalities

Human chromosomes Most cells in your body normally contain 46 chromosomes organized into 23 pairs In each of these 23 pairs youve inherited one chromosome from your father and one from your mother . Types . of Mutations | . Effects . of . Mutations. Learning Objectives. Identify different changes to DNA within both genes and chromosomes. Evaluate effects of changes to DNA on proteins produced and organisms’ overall survival. Elie Traer. September 13, 2012. Outline. Genetic tests and methodology. Cytogenetics. , i.e. large chromosomal abnormalities. FISH, smaller chromosomal changes. Genetic mutations. AML. Evolution of genetic tests in diagnosis and prognosis. Dawn Adams. Cytogenetics. CDC’s 2003 Science Ambassador Program. Overview. I. Chromosomal Variations. A. Polyploidy. B. Aneuploidy. II. Syndromes resulting from Aneuploidy. A. Trisomy 13. B. Trisomy 18. Istanbul. . International. . Hospital. IVF . Center. Is . aneuploidy. . screening. an . efficient. . tool. in . embryo. . selection. ?. Best. . embryo. Symmetrical. . PNs. . with. . equal. Risks and Benefits of Knowing Your Genetic Makeup. Julie Hopp. Genetic Screening: Who Should Be Tested. CDC’s 2004 Science Ambassador Program. Overview. Genetics Review. Types of Genetic Disorders. Henry County Professional Learning High School Session II. Chromosomal Mutations. Deletion. – part of the chromosome is missing. Starts with breaks in the chromosome. Radiation, heat, viruses, chemicals, etc.. © Taylor & Francis 2015. ROLE OF GENES AND CHROMOSOMES. A zygote is a single fertilized cell.. A somatic cell is a body cell. . A germ cell is a sex cell. . Cell structure includes a cell membrane that surrounds the cell material (cytoplasm). The nucleus in the center of the cell houses the chromosomes.. Dr Andrew Walley. Dept. of Genomics of Common Disease. School of Public Health. Course code (MBBS. ): . Genetics. . 1. Course code (BMS. ): NAGE-L7. Learning Outcomes. Congenital Abnormalities. Chromosomes. Lecturer . Dr. Samah A. Jassam BSc MSc PhD . MRSB. Al-Mustansiriya University . Collage of Pharmacy. What is the secret behind the . transmission of hereditary characteristics from generation to . 12.1 Chromosomal Inheritance . 1. Genes are located on chromosomes; this is called the . chromosome theory of inheritance. .. 12.1 Chromosomal Inheritance. Chromosomes can be categorized as two types:. What if it’s NOT just the number?. Gene Mutations. Damaged Chromosomes . –. sometimes a portion of a gene or chromosome is lost or damaged during meiosis. Gene mutation. – a mutation that affects the gene. Dr.Dianatpour. Medical Geneticist. Prenatal tests. Invasive. Karyotype. FISH. QF PCR. Array CGH. Noninvasive. NIPT. Karyotyping. Chromosome Preparation . Any tissue with living nucleated cells that undergo division can be used for studying human chromosomes. Most commonly circulating lymphocytes from . 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. Department of Zoology. Govt. P.G. College for Women, Gandhinagar, Jammu. . Structural Chromosomal Aberrations. Chromosomal. . aberrations. . are. . substantial changes. . in. . chromosome. . structure and number.