PPT-Genetics disorders-2 N umerical changes in chromosome numbers:

Aneuploidy Variation of a certain chromosome with in the set Hyperploidy gain of chromosome Trisomy 2n1 Double trisomy 2n11 Tetrasomy 2n2 Hypoploid y loss of chromosome Monosomy 2n1. By: Keith King. Objectives. State the history of genetics;. Describe major century events;. Define terms used in genetics . History of Genetics. People have known about inheritance for a long time.. --children resemble their parents. People have known about inheritance for a long time.. --children resemble their parents. --domestication of animals and plants, selective breeding for good characteristics. --Sumerian horse breeding records. Chapter 12. Review. Humans have 46 chromosomes. 44 are . autosomes. . 22 pairs of homologous chromosomes. 2 are sex chromosomes: X and Y. Females have two X chromosomes. Males have one X and one Y. Karyotypes. 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.. 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. seals is dominant (A) and the allele for short whiskers is recessive (a).. A short whiskered seal and a long whiskered seal mate and produce 7 offspring. The 7 offspring all have long whiskers. What is the genotype of the long whiskered seal?. Biologists study Genetics to find out what controls we can have on disease and traits that are passed on though the generations.. Traits. are the characteristics that may be passed on some may be visible and others may be not or difficult to see. . Rapisardo. Horn, PhD, DABMGG. Assistant Director, Duke . Cytogenetics. Laboratory. Assistant Professor, Department of Pathology. sarah.horn@duke.edu. References. Robbins Basic Pathology, Chapter 6. --children resemble their parents. --domestication of animals and plants, selective breeding for good characteristics. --Sumerian horse breeding records. --Egyptian data palm breeding. 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. Early ideas about genetics. Hippocrates:. Pangenesis. Particles (. pangenes. ) from each part of the body moved to the egg and sperm. Changes in organisms over their lifetime would be passed on to offspring . togenetics Training Program is to provide the trainee with the skills Preanalytical Laboratory Skills Assess banding resolution Interpret the results and generate report using appropriate ISCN nomen Medical genetics involves any application of genetics to medical practice. It thus includes: . studies of the inheritance of diseases in families. the mapping of disease genes to specific locations on chromosomes, .