PPT-Chromosomal disorders Farouq

Ababneh MD Geneticist H uman being begins life as a fertilized ovum zygote a diploid cell from which all the cells of the body estimated at about 100 trillion 100 x10 12 in number are . Also its possible for otherwise healthy people to develop severe illness so any one concerned about their illness should consult their doctor There are emergency warning signs that should signal anyone to seek medical care urgently Emergency Warning 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. Mutations. Hollywood’s images of . 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. 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. 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. 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. . 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). 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 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. 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. 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 .