PPT-Chromosomal &

Teratologic Disorders Conditions Down Syndrome Trisomy 21 Chromosome 21 codes for collage V1 Clinically MSK Joint Laxity C12 instability flexionextension views Scoliosis bracing for lt30 surgery for 5060 amp spondylolisthesis . 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. History of life on earth. If the earth was 24 hours old. ,. then . animals didn’t appear until the last 2 hours . dinosaurs went extinct in the the last 20 minutes – . anatomically modern humans -- the last one or two seconds . Cytogenetics. CDC’s 2003 Science Ambassador Program. Chromosomal Karyotypes. Overview. I. Chromosomes. A. Definition. B. Structure. C. Identification. II. Karyotypes. A. Definition. Karyotype. Human Chromosomes. Humans have . 46 . chromosomes arranged in . 23. pairs. Two . sex chromosomes. - determine an individual’s sex. Females . have two copies of the large X chromosome. Males have one X and a smaller Y chromosome. 1. A. Background. . 1. Genetics. . 1860’s—. Mendel. . proposed that discrete . inherited . factors . segregate . and assort . independently . during gamete . formation. . 2. Cytology. . 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. ! . 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. 1 1 . No. 3 . pp: 201 - 208 , March 201 3 Original a rticle The study of chromosomal abnormalities and heteromorphism in couples with 2 or 3 recurrent abortions in Shahid Beheshti H ospital of Ham 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.. 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. mutation. Mutations. Ectrodactyly. Progeria. Hypertrichosis. Severe Combined Immunodeficiency Disorder (SCID). Sickle Cell Anemia. Heterochromia. iridium. What is a mutation?. @A . mutation is any change in a cell’s .