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 . Obectives. Describe the result of meiotic division in terms of sexual reproduction. Discuss the structure of homologous chromosomes. Describe chromosomes in terms of ploidy. Distinguish between sexual and asexual reproduction. BY: Brandon. a. nd . Kellen. The odds of having a child with a chromosome disorder/syndrome is 1 in 160 live births. (.00625%). Approximately half of these births will end up being a miscarriage. . The bacterial chromosome is a double-stranded, circular DNA molecule associated with a small amount of protein. Eukaryotic chromosomes have linear DNA molecules associated with a large amount of protein. 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. 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.. 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. Chromosome 2A. Chromosome 2B. Chromosome 3A. Chromosome 3B. Chromosome 4A. Chromosome 4B. Chromosome 5A. Chromosome 5B. Chromosome 6A. Chromosome 6B. Chromosome 7A. Chromosome 7B. Chromosome 8A. Chromosome 8B. TERMINOLOGY OF GENETIC AND CONGENITAL DISORDERS. Congenital. Allele. Gene locus. Gene mutation. Genotype. Phenotype. Homozygous. Heterozygous. Polymorphism. Gene penetrance. Gene expression. CAUSES OF BIRTH DEFECTS.