PPT-Karyotypes and Chromosome Disorders

What happens if mistakes occur Nondisjunction When chromosomes fail to separate in meiosis Lead to chromosomes disorders Karyotype Is an organized profile of a persons chromosomes Two chromosomes specify gender. 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. . Cytogenetics. CDC’s 2003 Science Ambassador Program. Chromosomal Karyotypes. Overview. I. Chromosomes. A. Definition. B. Structure. C. Identification. II. Karyotypes. A. Definition. A visual representation of how a trait is inherited . through generations. . . Earliest. generations are at the . top. .. Each row is . one generation. . . Circle. = female, . Square. = male. Dark shading . 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.. A regular human cell has 46 chromosomes: 44 autosomes, which come in pairs, and 2 sex chromosomes, which specify gender (XX for female and XY for male).. The pairs of autosomes are called "homologous chromosomes." One of each pair came from mom and the other came from dad. Homologous chromosomes have all of the same genes arranged in the same order, but with slight differences in the DNA sequences of the genes.. Overview. Serious health issues can occur when there are problems with an organisms DNA.. Objectives:. 1. What is a karyotype? . 2. What is nondisjunction?. 3. Distinguish between the . chromosomal alterations. .. Most common X-linked disorders.. Usually . expressed only in males.. Rarely, due to random X-inactivation, a female will express disease, called manifesting . heterozygotes. .. Pattern Of Inheritance:. 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. . Chromosomes. Homologous chromosomes. Gene. Exon. Introns . Locus (loci). Alleles. Heterozygous alleles. Homozygous alleles. Genetic . Pathology. Genetic . pathology deals with the diseases that have genetic origin. It is estimated that . 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. Karyotype. Karyotype. – a . picture of . chromosomes. Autosomes. : the first 22 homologous pairs of chromosomes. . Autosomes . are the same for both males and females..  Sex chromosomes. : determines the sex of the individual. . INFORMATION COMPLEX LEARNING DIFFICULTIES AND DISABILITIES RESEARCH PROJECT (CLDD)The term, ‘rare chromosome disorders’, refers to conditions which:1. occur due to missing, duplicated o 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. 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.