PPT-Chromosomal Abnormalities

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 . Abnormalities in Chromosomal Number. Abnormalities in Chromosomal Structure:. Rearrangements. Fragile Sites. Define:. nondisjunction. polyploidy. aneupoidy. trisomy. monosomy. Abnormalities in chromosomal number. 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. 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.. Yuvaraja’s College. University of Mysore, Mysore. 11 September 2020. 1. www.hbmahesh.weebly.com. Chromosomes . have definite . structure and organization, which is normally constant from one cell division to next. . 1. A. Background. . 1. Genetics. . 1860’s—. Mendel. . proposed that discrete . inherited . factors . segregate . and assort . independently . during gamete . formation. . 2. Cytology. . . 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. 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 . : 2967-2974(2004) Panani et al: Chromosomal Aberrations in Primary Bladder Cancer 2969 Figure 1.A,B,C. Partial karyotypes showing add(11p), add(14q) and add(19q) respectively ( different cases). Karyo 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.. 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?. mutation. Mutations. Actual Mutations . in fruit flies. What is a mutation?. A mutation is any change in a cell’s DNA. A mutation can occur in an individual gene. - results in a single changed protein. 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 .