Running Head: GENETIC DISORDERS Genetic Disorders Amy Qualkinbush Child and Adolescents Development January 25, 2014 1 Genetic Disorders 2 "ACROCALLOSAL syndrome." Maureen Teresa Mahon, BS, MFS. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. Actocallosal syndrome is a rare congenital disorder in the individual has absence or only partial formation of the corpus callosum. This disease was first found by Schinzel in 1979. It is found in fingers and toes and is reported in both male and female and the cause of the disorder is yet to be found. There will be facial appearance is one does have the disease which would make their face look more aged. "Congenital myopathies." Dawn J. Cardeiro, MS, CGC. The Gale Encyclopedia of Neurological Disorders, Second Edition. Ed. Brigham Narins. Detroit: Gale, 2012. 2 vols. Myopathies is a disease that causes poor tone and weakness in muscles. When a person gets diagnosed with myopathies they are usually diagnosed when they are born. It is usually found by having muscle biopsies. Most people end up using braces or wheelchairs because of this disease. "Genetic disorders." Abdel Hakim Ben Nasr, PhD. The Gale Encyclopedia of Children's Health: Infancy through Adolescence. Ed. Jacqueline L. Longe. 2nd ed. Detroit: Gale, 2011. 4 vols. This article is about the different types of genetic disorders. They talk about the different mutations and inherited mutations and how they can be in every cell of the body. Children can have sex-linked diseases and disorders when the deleterious gene lies on the X and Y chromosomes. There are x-linked chromosome disorders and x-linked recessive disorders. The y-linked disorders can only transfer from father to son. The article talks more about the chromosome abnormalities. For example if you were to take away chromosomes or put more chromosomes that it can affect your child while giving birth. Genetic Disorders 3 "Genetic disorders." Abdel Hakim Ben Nasr, PhD. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. This article is about the different types of diseases or disorders a person can have. One that they particularly talk about is gigantism of the feet. When a person’s feet are a lot larger than others. That is usually an inherited disorder. The article also talks about how a genetic disorder does not have to be inheritable. Some disorders could be from a single form gene. This "Genetic factors and mental disorders." Rebecca J. Frey, Ph.D., Ruth Wineclaw, Ph.D., and Laura Jean Cataldo, RN, Ed.D. The Gale Encyclopedia of Mental Health. Ed. Kristin Key. 3rd ed. Detroit: Gale, 2012. 2 vols. This article is talking about three different ways genes influence mental disorders. They can cause Alzheimer’s disease or schizophrenia. It also talks about how people with mental disorders are more prone to having anxiety and depression. Then the article goes on about how abnormalities in the brain can cause late-onset AD or schizophrenia and how both of these disorders are polygenic. "Gene pool." Java O. Solis, MS. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. This article is talking about the gene pool. DNA tells everything about how a person’s body works. They also talk about alleles and how they work. Alleles are different versions of the same gene. It also goes into the different blood types, A, B, O, and AB. They explained how one’s blood type is determined on the type of blood their parents have. They also go into population genetics and how they are the study of gene variation within the population. Genetic Disorders 4 Laura Segebart DeThorne, Sara A. Hart, Stephen A. Petrill, Kirby Deater-Deckard, Lee Anne Thompson, Chris Schatschneider, Megan Dunn Davison. Journal of Speech, Language, and Hearing Research. Dec 2006 v49 i6 p1280(14). This article is about language difficulties for children and the difficulty of reading related skills. They did studies on children with language and speaking difficulties and found out that they will have a lower level of reading. "Newborn screening." Tish Davidson, AM. The Gale Encyclopedia of Children's Health: Infancy through Adolescence. Ed. Jacqueline L. Longe. 2nd ed. Detroit: Gale, 2011. 4 vols. Newborn screening is a test that is normally done after a child is born to see whether or not they have any disorders and whether or not they should be treated shortly after birth. Newborn screening started in the United States in the 1960’s by Dr. Robert Guthrie. The article shows all of the different types of disorders that have come up in screenings. For example a few are biotinidase deficiency, homocystinuria, and congenital deafness. I never knew how many different diseases there were when a child was born. Psychiatric comorbidities in common genetic disorders with physical disability. Retrieved from http://galenet.galegroup.com.indianapolis.libproxy.ivytech.edu.allstate.libproxy.ivytech.e du/servlet/HWRC/hits?docNum=A244651457&aci=flag&tcit=0_1_0_0_0_1&index=BA &locID=ivytech22&rlt=2&origSearch=true&t=RK&s=1&r=d&secondary=false&o=&n= 10&l=d&searchTerm=2NTA&c=2&basicSearchOption=KE&bucket=per&SU=Genetic disorders in children This article is about all sorts of different genetic disorders. They talk about klinefelter syndrome, turner syndrome, and all sorts of disorders and diseases. Some of these we’ve also read about in the book. I found it very interesting that klinefelter syndrome most likely end up Genetic Disorders 5 with other disorders. I have never heard of either of those diseases until I started reading the book and this article. "Sclerosing bone dysplasias." Dawn Jacob Laney, MS, CGC. The Gale Encyclopedia of Genetic Disorders. Ed. Laurie Fundukian. 3rd ed. Detroit: Gale, 2010. 2 vols. Sclerosing bone syplasias is a rare genetic disorder. It is the creation of abnormally dense and overgrown bones. When this disease is found it has usually been found in people from all sorts of different countries. There are many different symptoms of this disease; it is the overgrowth of one’s bone structure and remolding of the bone.