PPT-Ch. 15: Chromosomal Abnormalities

Abnormalities in Chromosomal Number Abnormalities in Chromosomal Structure Rearrangements Fragile Sites Define nondisjunction polyploidy aneupoidy trisomy monosomy Abnormalities in chromosomal number. 97 No 1 pp 6973 2001 Nuclear Technology Publishing BIOMARKERS SPECIFIC TO DENSELYIONISING HIGH LET RADIATIONS D J Brenner N Okladnikova P Hande L Burak C R Geard and T Azizova Center for Radiological Research Columbia University 6 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. Infertility in the Mare. Introduction. Extrinsic Factors. Lack of Use. Sub-fertile Stallion. Poor management. Intrinsic Factors. Many, many, many. Age. Reported to have the most significant bearing on reproductive performance. 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. Numerical Abnormalities . . Structural Abnormalities . Numerical Abnormalities . Gains and losses of whole chromosomes in the karyotype string are usually denoted by the use of either a plus ( ) or minus (−) sign before the aberrant chromosome; for example, . Cytogenetics. CDC’s 2003 Science Ambassador Program. Chromosomal Karyotypes. Overview. I. Chromosomes. A. Definition. B. Structure. C. Identification. II. Karyotypes. A. Definition. 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.. . sami. FICOG. CABCOG. Recurrent miscarriage. Definition :. ≥ 3 consecutive losses of clinically recognized pregnancies < 20 week gestation. Ectopic, molar, and biochemical pregnancies not included. ! . Asmaa A. Almukhtar .PHD . Lecturer . Medical Genetic Department. ICCMGR. 2021. How to read karyotype?. Need to know chromosomal structure and composition. What is the karyotype?(photograph). What is the karyotyping?(process). Prokaryotic cell. Plasmid (ring of DNA. ). 50 x Smaller 0.2-2μm. 50 x Bigger 10-100μm. And small rings of DNA called plasmids. Inside a nucleus. Main differences. Prokaryotes:. SIZE – 50 x smaller than eukaryotes. 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. Asmaa A. Almukhtar .PHD . Lecturer . Medical Genetic Department. ICCMGR. 2023. Introduction to Chromosomal Analysis. Reading &Writing a Chromosomal Analysis Report. How to write the chromosomal analysis report?.