PPT-Chromosomal Variations

Dawn Adams Cytogenetics CDCs 2003 Science Ambassador Program Overview I Chromosomal Variations A Polyploidy B Aneuploidy II Syndromes resulting from Aneuploidy A Trisomy 13 B Trisomy 18. 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 Abnormalities in Chromosomal Number. Abnormalities in Chromosomal Structure:. Rearrangements. Fragile Sites. Define:. nondisjunction. polyploidy. aneupoidy. trisomy. monosomy. Abnormalities in chromosomal number. 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. UConn. Summer 2010 - 2011. Presented by Anna Kijas. Music & Dramatic Arts Librarian. University of Connecticut. October 15, 2010. Background on Digital Audio . @ UConn. 2004 – present. M&DA Library uses a system called . Istanbul. . International. . Hospital. IVF . Center. Is . aneuploidy. . screening. an . efficient. . tool. in . embryo. . selection. ?. Best. . embryo. Symmetrical. . PNs. . with. . equal. 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:. . sami. FICOG. CABCOG. Recurrent miscarriage. Definition :. ≥ 3 consecutive losses of clinically recognized pregnancies < 20 week gestation. Ectopic, molar, and biochemical pregnancies not included. 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. ! . 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). R. Selvi a , Govind Raghav Saranya a , Jyotsna Murthy b , Andrea Mary F a , Solomon F. D. Paul a CORRESPONDING AUTHOR : Ms. R. SELVI Lecturer, Department of Human Genetics, Sri Ramachandra Universit Typically occur during meiosis (gamete formation) but can also occur during mitosis. Can lead to cancer some cases. We will look at: Translocation, Deletion, Duplication and Inversion. Few harmful gene mutations are passed on to the next generation because the zygote usually dies. If it lives, the offspring may have birth defects.. . Zharkova V.V.. 1. , Shepherd S.J.. 2. and Popova E.. 3. 1 – . Northumbria. University, Newcastle, UK. 2 – Le Sorbonne . Universite. , France. 3 - . Skolkovo. Institute of Science and Technology, Russia . 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?.