41. Human Genetics Pattern C is much less common among the general population in this Institute) Searcha database for information about a number of human genetic disorders. http://www.emc.maricopa.edu/faculty/farabee/BIOBK/BioBookhumgen.html

HUMAN GENETICS Table of Contents The human karyotype Human chromosomal abnormalities Human allelic disorders (recessive) Human allelic disorders (dominant) ... Back to Top There are 44 autosomes and 2 sex chromosomes in the human genome , for a total of 46. Karyotypes are pictures of homologous chromosomes lined up together during Metaphase I of meiosis. The chromosome micrographs are then arranged by size and pasted onto a sheet. Click here for a larger picture This picture is from The Primate Cytogenetics Network at ( http://www.selu.com/~bio/cyto/karyotypes/Hominidae/Hominidae.html Back to Top A common abnormality is caused by nondisjunction , the failure of replicated chromosomes to segregate during Anaphase II. A gamete lacking a chromosome cannot produce a viable embryo. Occasionally a gamete with n+1 chromosomes can produce a viable embryo. In humans, nondisjunction is most often associated with the 21st chromosome, producing a disease known as Down's syndrome (also referred to as trisomy 21). Sufferers of Down's syndrome suffer mild to severe mental retardation, short stocky body type, large tongue leading to speech difficulties, and (in those who survive into middle-age), a propensity to develop Alzheimer's Disease. Ninety-five percent of Down's cases result from nondisjunction of chromosome 21. Occasional cases result from a translocation in the chromosomes of one parent. Remember that a translocation occurs when one chromosome (or a fragment) is transferred to a non-homologous chromosome. The incidence of Down's Syndrome increases with age of the mother, although 25% of the cases result from an extra chromosome from the father. Click

42. The Genetic Interest Group. Supporting Individuals Affected By Genetic Disorders general help with your video player. with a membership of over 130 charities whichsupport children, families and individuals affected by genetic disorders. http://www.gig.org.uk/clip_help.htm

Reg Charity No. 803424 Help and information for viewing the video clips. Selecting the right format to view Quality of video clips Downloading to view offline Full screen viewing ... General help with your video player Video quality on ordinary internet connection Please note online video can be poor quality when viewed on a dial up internet connection (56k or less). You may find the download versions better. Close extra website windows: If you have extra website windows open (for other websites) these may reduce the quality of online video clips, quality may be improved if you close them. Time of day: the internet can be more crowded (slow) after 5pm. Delay: There is often a delay of 10 seconds to a couple of minutes before a vidow clip begins to stream to your computer. What's the Choice ? Choose a video format. Select the quality When you select a video on our website you may choose from the following formats and levels of quality: Windows Player - For Ordinary connection. - For Broadband connection. - Download to view offline.

43. Internet Links For Information About Genetic Disorders And Care Groups The internet is an excellent way to find information about genetic disordersand care groups. For other general links please click here. http://www.gig.org.uk/links.htm

Reg Charity No. 803424 Internet links for information about genetic disorders and care groups The internet is an excellent way to find information about genetic disorders and care groups. The links on this page have been ordered into catagory for your ease. If you would like your favourite pages added, please contact melissa gig.org.uk. For other general links please click here Please link to this website We welcome links from other websites , especially sites with information about genetic disorders See info on linking to GIG = recommended site Academic and Government Ethics and policy debate The Media and Public Understanding of Science Human Genetics ... Knowledge Parks UK Academic and Government Advisory Committee on Genetic Testing The AHRB Research Centre for Studies in Intellectual Property and Technology Law Association of Medical Research Charities British Society for Human Genetics ... Directorate General III-E 3 at the European Commission pharmaceutical and cosmetic department of the EU. Includes "Rules governing medicinal products in the EU" Directory of UK Academic Sites Directory of UK Research Sites Directory of UK Universities European Commission study of socio-economic research in the life sciences ... Medline at Healthworks - searchable database of published scientific and medical literature. You can search by keyword (e.g. drug name), author, journal and date.

44. University Of Tennessee Boling Center For Developmental Disabilities databases of reports and articles on rare disorders, provides general informationabout Inheritance in Man is a database of human genes and genetic disorders. http://www.utmem.edu/bcdd/resources/dr_genetics.htm

Skip navigation to go to main page content University Links Health Science Center Links About UTHSC Colleges Administration Admissions Research Students Visitors WebMail SiteMap Contact Information Enter search terms Select type of search Select type of search People Search Campus Search System Search Home About BCDD Services Service Programs ... Disability Resources Quick Links Newsletter Monthly Calendar Home Resources ... Disability Resources Resources Introduction Publications Disability Resources Genetic Disorders Angelman Syndrome Foundation (USA) provides information for parents and professionals about Angelman Syndrome, a genetic disorder caused by abnormal function of the gene UBE3A. Down Syndrome Congress offers information, resources, and network supports for families and professionals interested in Down Syndrome. Galactosemia (O MIM) , an online reseach article Galactosemia is an online resource offering general information about galactosemia, galactose content in foods, discussion forum, recipes, and related links. Genetic Alliance offers information, research, professional and support group resources, as well as provides forum for the discussion of legal, ethical, and social issues related to genetic disorders.

45. Genetic Disorders genetic disorders. Links to general information and resources for geneticdisorders. For specific disorders, search for the topic on this site. http://rarediseases.about.com/od/geneticdisorders/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Rare Diseases E - H Rare Diseases: G Genetic Disorders Home Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases Genetic Disorders Links to general information and resources for genetic disorders. For specific disorders, search for the topic on this site. Alphabetical Recent Up a category GAPS Index to Genetic Disorders and Birth Defects Site provides definitions, links, support groups, glossary, and resources. From Genetic Information and Patient Services (GAPS). The Genetic Alliance International coalition offers publications, support groups, email lists, advocacy, and events list. Genetic and Rare Conditions Site Advocacy groups, support groups, and resources for genetic disorders.

46. Facts On File, Inc. consumers, and members of the general public who want to identify conditionsand terms relating to genetic and congenital disorders will appreciate The http://www.factsonfile.com/newfacts/FactsDetail.asp?SIDText=0816038090&PageValue

47. Genetic Disorders - High School Pathfinder Two excellent general reference resources are RREF 616.04203 WYNBRANDT Wynbrandt,James. The encyclopedia of genetic disorders and birth defects. http://www.lkwdpl.org/lhs/geneticdisorders/

Lakewood High School Grade 10 - Ms. Smith Lakewood HS Pathfinders Lakewood City Schools Lakewood Public Library See also: Infectious Diseases Genetics Home Reference MEDLINE PLUS Genetic Disorders Your Genes Your Health ... The Genetic Interest Group - alliance of British support organizations Books: Diseases are found in Dewey 616. Use the catalog to search for specific disorders. Two excellent general reference resources are: RREF 616.04203 WYNBRANDT Wynbrandt, James. The encyclopedia of genetic disorders and birth defects. RREF 616.042 GENETIC Bellenir, Karen. Genetic disorders sourcebook: basic information about hereditary diseases and disorders such as Down syndrome, PKU, hemophilia, Von Willebrand disease, Gaucher disease, Tay-Sachs disease, and sickle cell disease.

48. Conditions And Diseases - Genetic Disorders Top Links role of diet in birth defects and genetic disorders. Includes nutritional links todisorders such as Australian Association of Academic general Practice A non http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Genetic Disorders Web Site Links Washington University in St Louis Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions. Respiratory Syndromes Associated with Congenital Abnormalities of Mucociliary Clearance A resource providing information for physicians and patients on laboratory analyses of Primary Ciliary Dyskinesia, Immotile Cilia Syndrome, and Kartagener's Syndrome. Rare Genetic Diseases In Children A layman's guide to genetic diseases, and a comprehensive resource for families on lysosomal storage diseases. Your Genes, Your Health

49. Psci-com: A Gateway To The Public Understanding Of Science The menu for the general public includes science fair and research project experiments,genetic disorders, genetics in the news, online and handson experiments http://psci-com.ac.uk/browse/detail/093e2674b5f0e2b2709b2f9047601f8f.html

text only Genetic disorders [ back to keyword index Blazing a Genetic Trail A report from the Howard Hughes Medical Center on attempts by scientists and families to hunt out flawed genes that cause disease. Areas covered include the discovery of the gene for cystic fibrosis, the Human Genome Project, genetic disorders and inheritance and a basic guide to genetics. The full text of the project in PDF format is available; Adobe Acrobate reader is required. Human genetics Human gene mapping Genetic disorders Contact a Family Contact a Family (CaF) is a national registered charity, founded in 1979, dedicated to helping families who care for children with any disability or special need. As well as information about the work of CaF, the site provides access to the CaF Directory, a database which includes conditions and syndromes for which there are some family support networks. Each entry contains a short medical description of the condition together with details of inheritance patterns and pre- natal diagnosis. This information is followed by details of the related support networks: their activities; publications; and what they offer to families. It is a subscription service, but limited free access is available. Patient education Genetic disorders Genetic Alliance Homepage of the Genetic Alliance, an international coalition that supports individuals with genetic conditions, educates the public and advocates for consumer-informed public policies. The web site gives details of the Alliance's activities and initiatives covering public and community participation, consumer public policy, education and provision of quality resources. Of particular interest is the "Art of Reporting" award, created to "acknowledge professionals in the media who exemplify the compassion and caring that is so important in explaining and reporting on genetic conditions"; Consumer Voices Network works to encourage informed public dialogue about genetic issues. There is also information on the current ethical, legal and social issues surrounding genetics, together with resources on genetics for health and science writers.

50. Manu-genetic Resource Most single gene disorders are rare, with an estimated frequency of one in 500 inthe general population. Close to 7,000 genetic disorders have been catalogued http://gucdc.georgetown.edu/hugem/Manu20.htm

Genetics Resourceses Categories of Genetic Disorders Categories of Genetic Disorders The following is a brief introduction to the categories of genetic disorders. Except for the genes of the X and Y chromosomes, there is a pair of genes for every function, one from each parent. The pair of genes, or partners, work together. Genetic disorders are of three major types: SINGLE GENE DISORDERS Single gene disorders, also called Mendelian disorders, are caused by altered or non-working (mutant) genes. Single gene disorders exhibit characteristic patterns of inheritance. Most single gene disorders are rare, with an estimated frequency of one in 500 in the general population. Close to 7,000 genetic disorders have been catalogued by Dr. McKusick. Single gene disorders are further divided into: Autosomal dominant conditions Autosomal recessive conditions X-linked recessive conditions Autosomal dominant conditions occur when an individual has one non-working copy of an altered or abnormal gene. A dominant gene causes abnormality even when paired with a normal gene partner. The symptoms are variable and can range from mild to severe. In general, autosomal dominant conditions affect structures of the body such as bones, skin, and teeth. They can be inherited or occur as a result of a new mutation (a change that happens in the sperm or egg at the time of fertil-ization). An individual with an autosomal dominant condition has a 1 in 2 chance of passing the altered gene to his or her offspring during every pregnancy and thereby having an affected child. Examples of such conditions include Marfan syndrome, achondroplasia, neurofibro-matosis, and certain forms of breast and colon cancers.

51. Indices - General Disability Information / Family Village Indices general Disability Information. Support Groups is a nonprofit organizationdedicated to helping individuals and families who have genetic disorders. http://www.familyvillage.wisc.edu/indices.htm

Indices General Disability Information This page lists information on disability-related organizations and Web sites that are not specific to one diagnosis or group of related diagnoses. Ability Web Site for the Disabled - United Kingdom This Web Site offers an indexed system of 100's of pages giving information and providing 1000's of links covering most subjects on the Internet, in a format that will help over come most problems faced by the disabled users and making it incredibly simple to be transparently connected to the relevant sites around the world. Administration on Developmental Disabilities (ADD) This is a federal agency that administers programs for the nearly four million Americans with developmental disabilities. Developmental disabilities are severe, chronic conditions attributable to mental and/or physical impairment which manifest before age 22 and are likely to continue through life. The major goal of the programs is a partnership with state governments, local communities, and the private sector to assist people with developmental disabilities to reach their maximum potential through increased independence, productivity, and community integration. Association of University Centers on Disabilities The Association of University Centers on Disabilities (formerly the American Association of University Affiliated Programs for Persons with Developmental Disabilities) is a 501(c) non-profit organization that promotes and supports the national network of university centers on disabilities, which includes University Centers for Excellence in Developmental Disabilities Education, Research, and Service (UCEDD), Leadership Education in Neurodevelopmental and Related Disabilities (LEND) Programs and Developmental Disabilities Research Centers (DDRC).

52. Chicago Center For Jewish Genetics Disorders - Links - General News & Policy Sit general News Policy Sites. BBC News Online Science http//news.bbc.co.uk/science/nature/default.shtml. 2003 Chicago Center for Jewish genetic disorders. http://www.jewishgeneticscenter.org/links/news.asp

BBC News Online: Science http://news.bbc.co.uk/science/nature/default.shtml Bioethics.net: The American Journal of Bioethics http://bioethics.net/ BioSpace: Latest News on the Pharmaceutical Companies http://www.biospace.com/ Chicago Tribune http://www.chicagotribune.com National Academy of Sciences: Science in the Headlines http://www.nas.edu/headlines/ New York Times http://www.nytimes.com Sun Times http://www.suntimes.com Reuters Health Information Service http://www.reutershealth.com/ Supreme Court of the United States http://www.supremecourtus.gov Thomas: Legislative Information on the Internet http://thomas.loc.gov/ US Senate www.senate.gov US House of Representatives www.house.gov White House www.whitehouse.gov This page last updated on January 10, 2003. Chicago Center for Jewish Genetic Disorders Home About the Center About Jewish Genetic Disorders Cancer Genetics ... Links Supported by a grant from the Michael Reese Health Trust

53. ETHICAL AND SOCIAL IMPLICATIONS OF GENETIC DISORDERS of people who are touched when a patient is diagnosed with a genetic disorder. system,the insurance and health systems, the community and society in general. http://med.usd.edu/som/genetics/curriculum/3DETHIC4.htm

(Lesson 3- Table of Contents) (Next) (Glossary) ETHICAL AND SOCIAL IMPLICATIONS OF GENETIC DISORDERS As discussed previously, genetic counseling refers to the provision of information regarding a genetic disorder or birth defect, the implications for current health, future development or psychosocial function, and follow-up care. It also refers to the provision of information to the patient or parents regarding the risk of occurrence or recurrence in future children and their reproductive options. The practice of medical genetics is similar to the practice of general medicine in that an accurate diagnosis needs to be established, and the prognosis and management, if any, needs to be discussed. However, a major difference lies in the fact that the diagnosis of a genetic disorder impacts not just the patient, but the immediate and extended family as well. For instance, clinical evaluation of family members may be necessary to establish a patient's diagnosis. The recognition that a person has a particular genetic disorder might also lead to the realization that other family members are at risk. Like a stone thrown in water, there is an ever widening circle of people who are touched when a patient is diagnosed with a genetic disorder. The diagnosis touches members of the immediate and extended family. It may also send ripples through social service agencies, the school system, the insurance and health systems, the community and society in general. Following a genetic diagnosis, numerous ethical and social issues may be raised. However, the main ethical principles of medicine still hold: autonomy, privacy, beneficence and non-malfeasance, and justice.

54. BloodMed - General Section of their careers up to date in molecular genetics, both in general techniques and Thebooks aim to encompass inherited, but not acquired, genetic disorders. http://www.bloodmed.com/home/book-review.asp?id=11

55. Genetic Disorders Clear, accurate information on this common genetic iron overload and services to thebleeding disorder community in Victoria, as well as the general public. http://www.supportfind.com/category/Gene01.asp

Home Category Genetic Disorders Albino Support Group Victoria, Australia Provides support and information to people with Albinism and their family and friends. http://www.supportfind.com/Org_details.asp?Org_id=asgau ALDFST - Adrenoleukodystrophy Family Support Trust London, United Kingdom Adrenoleukodystrophy Family Support Trust, known as ALDFST is a national registered charity founded by the parents of James Attia, in August 1993, in an effort to help and support ALD sufferers and their families, and to raise public awareness of this horrific killer disease. http://www.aldfst.org.uk Alstrom Syndrome UK Support Group Devon, United Kingdom Information centre and discussion forum for anyone with an interest in Alstrom Syndrome. http://www.alstrom.org.uk/ Angelman Syndrome Association Nationwide, Australia The association provides support and assistance to people with Angelman Syndrome and their families. http://www.angelmansyndrome.org Association of Genetic Support of Australasia New South Wales, Australia The Association of Genetic Support Of Australasia, facilitates support for those directly or indirectly by genetic conditions throughout Australasia.

56. Preconception Healthcare Resource Center - Parents2B Homepage Treatment Program Massachusetts general. Endocrinology and 13, and Related disordersOfficial Web Inherited genetic disorders. 4Providers. genetic Screening for http://www.b4pregnancy.org/parents2b/topics.asp?catID=45

57. Division Of Medical Genetics - Clinical Services general genetics Clinic – evaluations for possible genetic disorders;Cancer genetics, excluding hereditary breast/ovarian cancer; http://www.uphs.upenn.edu/penngen/clinical.html

Home Clinical Services Cancer Genetics Hemochromatosis HHT Center Marfan Syndrome Metabolism Neurofibromatosis Tuberous Sclerosis VHL Research Education Faculty/Staff Conferences ... Contact Us Other local links for clinical genetics: Penn Ob/Gyn Children's Hospital Penn's DNA Lab Division of Medical Genetics Clinical Services and Centers Clinical services including diagnosis, counseling and management of specific hereditary disorders are available through the Division of Medical Genetics. Patient care is provided primarily through specialized centers set up to met the needs of older children and adults with specific inherited disorders. Patients are seen throughout the week on the campus of the University of Pennsylvania Medical Center. Patients are either referred by a health care provider or may be self-referred. Appointments are made through the referral coordinator, Olga Slotiuk at 215-662-4740. A genetic counselor may contact newly referred patients before the first appointment to learn about the reasons for referral, the family history, the medical history, and what testing has already been performed. Often, medical records and test results will need to be reviewed before the first visit. Based on a review of records, additional consultations or tests might be needed. These could be scheduled at the University of Pennsylvania Medical Center or at another medical center before the appointment date. If a patient is traveling from a distance, it may be possible to arrange consultations on the same day as the appointment with Medical Genetics. At the time of the visit other consultations may be recommended.

58. Pediatrics: Infants, Children, Adolescents, And Young Adults | GeneralPediatrics Vision; general Medical Resources; general Pediatric Resources. Newborn ScreeningTests MEDLINEplus genetic Brain disorders MEDLINEplus - Metabolic http://www.generalpediatrics.com/CommonProbLay.html

Common Pediatric Health Problems for Patients and Families Search Problems A - Z for Patients A B C D ... Z Choose Problem by Category Adolescent Medicine - Pregnancy and Reproduction Allergy and Immune System Birth Defects / Genetics Blood and Lymph Nodes ... X-Rays Multilingual Patient Education Resources *Note: Individual materials have not been evaluated but are believed to come from reliable sources. Also see Multilingual Professional Education Resources AACAP - Facts for Families in Espanol, Deutsch, Francaise, Polish AAFP - Pamphlets in Spanish American Red Cross - Multilingual ... Utah Consumer Health Information Network - 24 Language Project Adolescent Medicine - Pregnancy and Reproduction Also see Adolescent Medicine Information for Providers AACAP - Parenting: Preparing for Adolescence AAFP - Understanding Your Teens Emotional State AAP - Common Health Problems in College Students ... Virtual Hospital - Pap Smear AIDS / HIV AAP - Facts About HIV and AIDS Aegis CDC - AIDS Frequently Asked Questions CDC - HIV/AIDS Prevention ... VH College Health 101 - HIV Testing Contraception / Birth Control ACOG - Birth Control Especially for Teens Children's Hospital Boston - Contraception Children's Hospital Boston - Sexuality and Sexual Health EngenderHealth - Contraception ... Virtual Hospital - Contraceptive Foams, Inserts and Jellies

59. @Life Health Discussion Groups Deficits, Developmental disorders, and Other general Disabilities Discussion Board.genetics, 62 posts, Last post 4/21/04 0851 AM. genetic disorders such as http://www.atlife.com/cgi-bin/forum/wwwthreads.pl?Cat=

60. General Clinical Research Center | Vanderbilt University | Nashville, Tennessee This database is a catalog of human genes and genetic disorders authored and editedby Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere http://www.mc.vanderbilt.edu/gcrc/r_genetics_links.html

Medical Center Home Eskind Library Search Help ... Research iNavigate.GroupName = 'GCRC3'; iNavigate.GroupTitle = 'GCRC3'; iNavigate.OpenOnClick = true; GCRC Home General Information Overview Leadership Related Links Resources Administration Biostatistics Rapid Response Biostatistics Links ... Nursing Training Research Skills Workshops Statistical Workshops Academic Links Patient Information Driving Instructions Want to Volunteer? Studies Recruiting Patients Investigator Information Protocol Information GCRC Contacts GCRC Resources - Genetics Genetics Links Genetics Links of Interest Genetics Basics Genetics Information Genetics Tools/Databases Vanderbilt GCRC Informatics Core Genetic Materials Genetics Basics National Human Genome Research Institute Glossary of Genetic Terms Cold Spring Harbor Laboratory Animated Primer on the Basics of DNA, Genes, and Heredity Medical Genetics Research Tool - Password RequiredThis is a tutorial developed at Meharry Medical College by Dr. James D. Russell. Contact Dr. John Phillips

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