PPT-CHROMOSOME ABNORMALITOES AND GENETIC COUNSELINGS

Presenter R2 張家甄 Supervisor Fellow 楊思婷 醫師 Outline PART ONE BASIC CONCEPTS 2 Chromosome Analysis INTRODUCTION CLASSICAL CYTOGENETIC ANALYSIS MICROARRAY . Prepared by -. RAKESH CHOUDHARY. M.Sc.(AGRI) . GENETICS AND PLANT BREEDING . . WELCOME. Linkage and Chromosome. Mapping . Linkage and Chromosome. Mapping . Genetic linkage was first discovered by the . MIZZZ FOSTER © 2015. Quick review of Genes and Proteins. Genes. are a sequence . of DNA nucleotides which . code . (codons) for the building of a polypeptide chain at the ribosome which will be folded into a protein inside the rough endoplasmic reticulum. Genetic disorders can be due to any of the following factors:. A. Monogenetic Disorders: Caused by a mutation in a single gene. Autosomal. recessive alleles:. a. You may be a carrier and not know it, since the dominant allele masks the recessive.. ความหมายของ . Genetic Algorithms . องค์ประกอบของ . Genetic Algorithms . กระบวนการของ . Genetic Operator . ขั้นตอนการทำงาน . SUBMITTED BY:. ALABADO, SHEENA ANN C.. LUISTRO, JANELLE. What is a chromosome?. A chromosome is…. A very long DNA molecule and associated proteins that carries portions of the hereditary information of an organism.. Congenital defects: explain the classification of congenital defects, and how non-genetic factors may lead to such defects. SINGLE. MULTIPLE. Malformation . Disruption. Deformation . Dysplasia. Sequence. © Taylor & Francis 2015. ROLE OF GENES AND CHROMOSOMES. A zygote is a single fertilized cell.. A somatic cell is a body cell. . A germ cell is a sex cell. . Cell structure includes a cell membrane that surrounds the cell material (cytoplasm). The nucleus in the center of the cell houses the chromosomes.. Olivia Fordiani. The content of this video, as well as the thoughts, views, and opinions expressed herein belong solely to the creator and do not necessarily reflect the views of FamilySearch International and RootsTech.. Mohanad. Mahdi Al-. Hindawi. . Introduction . A . gene. (from ancient Greek: . gonos. : . offspring. , procreation) is a locus (or region) of DNA which is made up of nucleotides.. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. . karyotype. is an important clinical method for diagnosing genetic disorders.  Explain why it is useful for diagnosing . monosomies. and . trisomies. .”  . (3 marks). Key Ideas. karyotype. = photograph of all the chromosomes in a cell. GENETIC. ENVIRONMENTAL. BOTH. CONGENITAL. HEREDITARY. FAMILAL. MUTATIONS. PERMANENT change in DNA. GENE. MUTATION: (may, and often, result in a single base error). CHROMOSOME . MUTATION: (visible chromosome change)part of chromosome. disorders- common cause of diseases, prolonged handicap and death in human.. 1% newborns have monogenic diseases like. CF, SCD etc.. . 0.5% have . chr. . disorders like Down Synd.. 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. Department of Zoology. Govt. P.G. College for Women, Gandhinagar, Jammu. . Structural Chromosomal Aberrations. Chromosomal. . aberrations. . are. . substantial changes. . in. . chromosome. . structure and number.