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. Dimitri Kohler, Swiss Health Observatory (SHO). Stefan Otto, Federal Office of Public Health (FOPH) . Paris, April 26. th. 2013. Second expert group meeting on medical practice variations. Draft. – . Abnormalities in Chromosomal Number. Abnormalities in Chromosomal Structure:. Rearrangements. Fragile Sites. Define:. nondisjunction. polyploidy. aneupoidy. trisomy. monosomy. Abnormalities in chromosomal number. Yan . Zhang. 1. , . Hongbin. . Yu. 2. , . Alexander . Smirnov. 1. , . Tom . Eck. 1. , . Mian. . Chin. 3. , . Lorraine . Remer. 3. , . Qian. . Tan. 1. , . Robert . Levy. 4. 1 GESTAR/USRA, 2 ESSIC, 3 NASA/GSFC, 4 SSAI. 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. 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. C. Down Syndrome. 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. C. Down Syndrome. http://io9.gizmodo.com/10-unusual-genetic-mutations-in-humans-470843733. Unharmful. Mutations. Mila . Kunis. has complete . heterochromia. . Kate Bosworth has . sectoral. . heterochromia. . Angelina Jolie has central . 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.. 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. 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. 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 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?.