21. Kennedy Krieger Institute Down Syndrome with mental retardation. down syndrome is a genetic disorder thatoccurs in approximately 1 in 800 live births. It is caused most http://www.kennedykrieger.org/kki/kki_diag.jsp?pid=1081

22. Down Syndrome Link - Folic Acid down syndrome is a genetic disorder and almost always causes mentalretardation and physical abnormalities. It is reported to be http://www.prevention-news.com/nutrition/down_syndrome_link_-_folic_acid.htm

- The ARC - California Edition - Possible Folic Acid - Down Syndrome Link Prevention advocates became very intrigued when they read the results of a new study looking into the link between Down syndrome and folic acid. Scientists recently reported their preliminary study findings and stated that mothers of children with Down syndrome often cannot efficiently metabolize the B vitamin, folic acid. These researchers had found that almost 60% of the mothers of children with Down syndrome had a mutation which resulted in reduced efficiency of an important enzyme. This genetic abnormality hinders the metabolism of folic acid, and the defective process (known as maternal non-disjunction) actually occurs before conception and is responsible for 95% of all cases of Down syndrome, according to these scientists. About 80% of Down syndrome fetuses spontaneously abort, they reported. The study was published in the October issue of the American Journal of Clinical Nutrition and identified the need to conduct a larger clinical study in order to refine the dose/effect of the vitamin folic acid as it relates to Down syndrome. The published study had involved 57 mothers of children with Down syndrome who were compared to 50 mothers of children whom did not have the disorder. Down syndrome is a genetic disorder and almost always causes mental retardation and physical abnormalities. It is reported to be the most common genetic disorder, afflicting about one out of every 700 live-born babies. Affected children are at risk of having physical abnormalities such as a broad, flat face and slanting eyes and usually are at a high risk of heart defects, visual or hearing impairment.

23. Profiles.html genetic disorder Profiles and Organizations. The disorder also causes digestive problems,saltytasting skin, and susceptibility to down syndrome (Trisomy 21). http://www.accessexcellence.org/AB/WYW/wkbooks/PAP/profiles.html

Genetic Disorder Profiles and Organizations Adenosine Deaminase Deficiency (ADA) Affects: 1 out of 100,000 Type of trait: autosomal recessive Chromosome on which gene is located: Test applications: prenatal, carrier Children with this disease have a defective immune system, and are susceptible to all types of infections. Gene therapy is being tested as a potential cure. Cystic Fibrosis Affects: 1 out of 2,500 Caucasians; 1 out of 90,000 African Americans Type of trait: autosomal recessive Chromosome on which gene is located: Test applications: carrier, prenatal, newborn Cystic fibrosis results in the secretion of a thick mucous in the lungs that blocks the flow of air. The disorder also causes digestive problems, salty-tasting skin, and susceptibility to respiratory tract infections. Cystic fibrosis is progressive and requires extensive medical treatment with antibiotics and digestive enzymes . It also requires daily respiratory therapy. Left untreated, most children will die by the time they are four or five. A special diet, daily doses of antibiotics to prevent infection, and other treatments can extend life expectancy to adolescence or later. About 40% of people with cystic fibrosis live to the age of 30. Resource Organization: National Cystic Fibrosis Foundation 6931 Arlington Road Bethesda, MD 20814

24. Mini Symposium On Genetic Disorders or by a combination of genetic and environmental YOUR disorder WILL BE SELECTEDFROM THE Fibrosis; Alzheimers; Tay Sachs Disease; colorblindness; down syndrome; http://www.accessexcellence.org/AE/ATG/data/released/0348-RosieMcKinney/

MINI-SYMPOSIUM ON GENETIC DISORDERS Grade level/subject: High school biology What is it? A symposium is a meeting where participants give oral presentations on subjects revolving around a common theme. Our mini-symposium is based on the theme of genetic disorders. Each student will select one disorder from the list, research information on the disorder, and prepare and deliver a comprehensive, concise, and complete oral presentation to the class. Each presentation must be at least three minutes and not more than five minutes in length. A time for questioning will follow each presentation. Since you are expected to be an expert on the disorder you choose, you must deliver your talk WITHOUT reading it. You will be given an index card on which you may jot down a few TOPICS (not facts). Only one side of the card may be used. You will have it only as a reminder of what you are going to say, NOT as a list of statements you are going to make. You may also include any difficult-to-spell terms that you wish to write on the board. The index card will be passed in as soon as your talk is over. What must be included in the presentation?

25. © The Centre For Genetics Education is the single most common chromosomal disorder and active being a critical regionfor down syndrome on the Contact the local genetic counselling service for http://www.genetics.com.au/Genetics2003/FactSheets/24a.asp

GENETIC FACT SHEETS Fact Sheet 24a Last Updated: May 2002 CHROMOSOMAL DISORDERS I - DOWN SYNDROME - TRISOMY 21 Produced by the Centre for Genetics Education. Fax: (02) 9906 7529 Email: genetics@med.usyd.edu.au Internet: www.genetics.com.au Adobe Acrobat PDF Printable Version (23 KB) WHAT IS DOWN SYNDROME? In 1866, a physician named John Langdon Down who worked with people with intellectual disabilities, observed that a number of his patients were so similar in appearance that they might easily be mistaken for children of the same parents. In a classic description, he recorded that these individuals possessed a broad, flat face, a thick tongue and a small nose and were intellectually impaired to a variable degree. This was a time in history when many new lands and races were being discovered and described for the first time. Thus the name suggested for people with this specific disability was Mongolism. Today the disorder is more appropriately referred to as Down syndrome or trisomy 21. WHY IS DOWN SYNDROME REFERRED TO AS TRISOMY 2I? The disorder results from an abnormality in the chromosome number in some, or all, of the cells of an individual, specifically involving chromosome number 21.

26. National Down Syndrome Congress Are any prenatal tests available to detect down syndrome? Yes. problems and to identifythose who are at high risk of having a baby with a genetic disorder. http://www.ndsccenter.org/qads.asp

about DOWN SYNDROME What is Down syndrome? Down syndrome is a chromosomal disorder characterized by the presence of an extra #21 chromosome. Instead of having 46 chromosomes in each of his/her cells, a person with Down syndrome has 47. The extra chromosome may be derived from either the egg or the sperm. It is believed that during cell division of a sperm or egg, the two #21 chromosomes do not separate properly (nondisjunction). Thus, one cell will have an extra #21 chromosome which later, if united with a normal germ cell which has among others one #21 chromosome, may lead to trisomy 21. The first cell at conception then has 47 chromosomes instead of "normal set" of 46 chromosomes. When this cell with three #21 chromosomes continues to multiply, and the pregnancy is carried to term, a baby with Down syndrome will be born. This form of chromosome error, trisomy 21, is found in about 95% of persons with Down syndrome. The 5 percent of babies with Down syndrome who do not have trisomy 21 may have Translocation, Mosaicism or partial trisomy. In translocation Down syndrome, there are also three copies of the #21 chromosome. However, one of the #21 chromosomes is attached or translocated on another chromosome, usually a #14, #21,or #22 chromosome. Three to four percent of children with Down syndrome have translocation. About one third to one half of translocations are inherited from one of the parents. When this happens, the carrier parent has the normal amount of genetic material, however one of the #21 chromosomes is attached to another chromosome. As a result this individual's total chromosome count is 45 instead of 46. The carrier parent is clinically unaffected because there is no loss or excess of genetic material. Doctors refer to a parent like this as a balanced carrier.

27. SOAR are Fetal Alcohol syndrome, down syndrome, and Fragile X syndrome. http//thearc.org.PraterWilli syndrome is a complex genetic disorder that includes short http://janweb.icdi.wvu.edu/soar/mr.html

Job Accommodation Network's Searchable Online Accommodation Resource Step 2 Select the Limitation MENTAL RETARDATION OR OTHER DEVELOPMENTAL DISABILITIES Skip Intro Mental Retardation begins in childhood and is characterized by limitations in both intelligence and adaptive skills. An individual is considered to have mental retardation based on three criteria: intellectual functioning level (IQ) is below 70-75; significant limitations exist in two or more adaptive skill areas; and the condition is present from childhood (defined as age 18 or less) (AAMR, 1992). The three major known causes of mental retardation are Fetal Alcohol Syndrome, Down syndrome, and Fragile X syndrome. http://thearc.org Developmental Disabilities are severe, chronic disabilities which are attributable to a mental or physical impairment or combination of mental and physical impairments; are manifested before the person attains the age twenty-two; is likely to continue indefinitely; and results in substantial functional limitations in three or more of the following areas of major life activities: self-care receptive and expressive language learning mobility self-direction capacity of independent living economic self-sufficiency Additional Helpful Terminology Asperger Syndrome is a social and communication disorder. Individuals with Asperger Syndrome may have problems with social interaction, nonverbal communication, or managing change. They appear to lack common sense. Other difficulties include motor skills, writing, math, abstract reasoning, or concept formation. People with Asperger Syndrome may have anxiety, depression, or behavioral problems.

28. InteliHealth: Down Syndrome Expected Duration. down syndrome is an inherited genetic disorder thatis present at birth and is remains throughout life. Prevention. http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/9844.html

Entire Site Diseases Conditions Healthy Lifestyle InteliTools Your Health IH Catalog Dental chrome_imgPreload('gifChr_mid_but_home_mo_1','http://img.intelihealth.com/i/C/Chr_mid_but_home-o.gif'); chrome_imgPreload('gifChr_mid_but_shop_mo_2','http://img.intelihealth.com/i/C/Chr_mid_but_shop-o.gif'); chrome_imgPreload('gifChr_mid_but_dental_mo_3','http://img.intelihealth.com/i/C/Chr_mid_but_dental-o.gif'); chrome_imgPreload('gifChr_mid_but_drug_mo_4','http://img.intelihealth.com/i/C/Chr_mid_but_drug-o.gif'); chrome_imgPreload('gifChr_mid_but_askexpert_mo_5','http://img.intelihealth.com/i/C/Chr_mid_but_askexpert-o.gif'); chrome_imgPreload('gifChr_mid_but_medical_mo_6','http://img.intelihealth.com/i/C/Chr_mid_but_medical-o.gif'); chrome_imgPreload('gifChr_mid_but_chats_mo_7','http://img.intelihealth.com/i/C/Chr_mid_but_chats-o.gif'); chrome_imgPreload('gifchr_mid_but_news_mo_8','http://img.intelihealth.com/i/c/chr_mid_but_news-o.gif'); chrome_imgPreload('gifChr_mid_but_privacy_mo_9','http://img.intelihealth.com/i/C/Chr_mid_but_privacy-o.gif'); Advertisement Down Syndrome What Is It?

29. Genetics WWW Resources This web site contains information about this genetic disorder, treatments available articlesdealing with a variety topics relating to down's syndrome. http://www.ncsu.edu/sciencejunction/terminal/imse/lowres/1/genetics.htm

Selected Genetics Web Sites Down's Syndrome WWW Page http://nas.com/downsyn/ The Down's Syndrome WWW Page is an excellent resource to learn about Down's Syndrome. This web site contains information about this genetic disorder, treatments available, information on support groups, and many recently published articles dealing with a variety topics relating to Down's Syndrome. A great resource for a student doing a genetic disorder report on Down's Syndrome. Lawrence Livermore National Laboratory's Human Genome Center http://www-bio.llnl.gov/bbrp/genome/genome.html This web site contains an overview of the work being done at the Lawrence Livermore National Laboratory's Human Genome Center. Maps of chromosome 19, FISH images, DNA sequencing, instrumentation for the Human Genome Project and other genetic biotechnology information can be found here. OMIM Home Page - Online Medelian Inheritance In Man http://www3.ncbi.nlm.nih.gov:80/Omim/ This web site contains a catalog of human genes and genetic disorders. Included are textual information, pictures, and reference information. This site contains links to NCBI's Entrez database of MEDLINE articles. Excellent search engine. The Internet Pathology Laboratory http://www-medlib.med.utah.edu/WebPath/webpath.html

30. Down Syndrome - DrDonnica.com - The First Name In Women's Health, Down Syndrome Dr. Donnica down syndrome is a genetic disorder resulting from having an extra chromosome,number 21 (3 copies instead of 2). It is the most frequent cause of http://www.drdonnica.com/display.asp?article=3167

31. Member Sign In about prenatal diagnosis of a genetic disorder, one half risks and the consequencesof genetic disease negative or positive side of down syndrome, influencing a http://www.medscape.com/viewarticle/417874_8

If you are having trouble logging in: In order to use Medscape, your browser must be set to accept "cookies." To find out how to adjust your browser settings, please click here Log In Username Password Forgot your password? Not a Member? Register Now for free access to: MEDLINE (Optimized for Physicians) 200+ Free CME Courses 25 Medical Specialty Sites 100+ Medical Journals Conference Coverage Daily Medical News About Medscape Help WebMD Health

32. Down Syndrome: A Promising Future, Together With over 350, 000 families affected by down syndrome in the United States alone,the genetic disorder is an integral part of many people's lives, both http://ambassadors.net/archives/issue3/review2.htm

THE AMBASSADORS Health Supplement BOOK REVIEW Volume 1, Issue 5 November/ December 1998 Down Syndrome: A Promising Future, Together Edited by: Dr. T. J. Hassold Dr. D. Patterson 'It is foreseeable that Down Syndrome- A Promising Future, Together will become an essential reference for families of people with Down syndrome, physicians, primary health care professionals, researchers, educators, social workers, early intervention workers, and students. It provides practical advice from leading practitioners and advocates in the field of Down syndrome research and care.' Down Syndrome.- A Promising Future, Together (Wiley-Liss Publishers) is a true 1998 Christmas gift for many families affected by Down Syndrome. The genetic syndrome is caused by a chromosomal abnormality and affects the person's physical and cognitive development. With over 5,000 born with Down Syndrome every year in the U.S. alone, the genetic disorder is currently the most common chromosomal abnormality worldwide. As the number of people who will interact with this genetic condition increase substantially, the need for more widespread public education and acceptance is becoming a demanding issue. The idea for the book grew out of a national conference on Down Syndrome sponsored by the National Down Syndrome Society (N.D.S.S.) intended to discuss clinical, educational, developmental, psychosocial and vocational issues relevant to people with Down syndrome. The conference brought together a broad group of participants; people with Down syndrome (D.S.), their families, health professionals involved in the care of individuals with Down syndrome, and scientists engaged in D.S. research. As the 500 conference participants attest, a great amount of material was presented in the 4-day conference, the highlights of which Hassold and Patterson attempt to capture and summarize in their book.

33. Prenatal Diagnosis: Amniocentesis And CVS Handout providing a general overview of Amniocentesis and CVS.Category Health Reproductive Health Prenatal Testing Amniocentesis...... with down syndrome or another disorder, such as spina bifida. The test may alsobe helpful if you or your partner are known carriers of a genetic disorder, http://familydoctor.org/handouts/144.html

This handout is also available in Spanish. Information from Your Family Doctor Prenatal Diagnosis: Amniocentesis and CVS What is prenatal diagnosis? Prenatal diagnosis is a way for your doctor to tell if your fetus has a problem such as Down syndrome. Amniocentesis and chorionic villus sampling (CVS) are tests that help find genetic disorders before birth. Some parents are at increased risk of having a baby with a genetic disorder or other problem and may want to have one of these tests. Knowing about problems before the baby is born may help parents make decisions about health care for their infant. Certain problems can be treated before the baby is born, while other problems may need special treatment right after delivery. In some cases, parents may decide not to continue the pregnancy. Do all pregnant women have these tests? No. Amniocentesis or CVS may be considered in situations in which the parents are at increased risk of having an infant with a genetic disorder. The tests may be useful if you are 35 years of age or older by the time your baby is due. Women over age 35 have an increased risk of having a baby with a chromosome abnormality, such as Down syndrome. The tests may also be useful if you have previously had a child with Down syndrome or another disorder, such as spina bifida. The test may also be helpful if you or your partner are known carriers of a genetic disorder, such as cystic fibrosis. What is amniocentesis?

34. Transgenic Mice Model Of Learning Disorder In Down Syndrome Mice Model of Learning disorder in down syndrome. APPLICATIONS OF TECHNOLOGY Medicalresearch. ADVANTAGES Animal model of major genetic factor in down syndrome. http://www.lbl.gov/Tech-Transfer/collaboration/techs/lbnl1313.html

Available Techs Licensing Research Collaboration ... Site Search Transgenic Mice Model of Learning Disorder in Down Syndrome Ernest Orlando Lawrence Berkeley National Laboratory TITLE: Transgenic Mice Model of Learning Disorder in Down Syndrome APPLICATIONS OF TECHNOLOGY: Medical research ADVANTAGES: Animal model of major genetic factor in Down syndrome ABSTRACT: Berkeley Lab researchers, working with a special series of transgenic mice containing different adjacent segments of human chromosome 21 in their DNA, have identified a major genetic factor contributing to mental retardation in Down syndrome. The mice that carry the segment of human chromosome 21 that includes the DYRK gene, exhibit learning deficits. Dosage of this gene plays an important role in how neuronal pathways are put together, and any deviation from the normal complement of two copies of this gene appears to impair the ability to learn. Down syndrome occurs in about one out of every 800 newborns with the incidence increasing markedly in the offspring of women over 35. Affecting an estimated one million Americans, it is the leading genetic cause of mental retardation and is associated with a shorter-than-average life expectancy (55). STATUS: Patent pending/Available for licensing/bailment REFERENCE NUMBER: IB-1313 CONTACT: Technology Transfer Department E.O. Lawrence Berkeley National Laboratory

35. Capital Health - Down Syndrome down syndrome is the most common genetic disorder. People down syndrome,Audio FIle. down syndrome is the most common genetic disorder. People http://www.cha.ab.ca/Health Services/Health Topics/Body Location Systems/Genetic

Hospitals Capital Health Link Site Map Media Desk ... Quick Links Genetics/Birth Defects Capital Health Home Your Health Health Topics Body Location Systems ... Genetics/Birth Defects Down Syndrome Audio FIle Down syndrome is the most common genetic disorder. People with Down syndrome usually are mentally retarded, have characteristic facial features and a variety of health problems. Normally, each sperm and egg cell contains 23 chromosomes. When they unite, the resultant embryo has 46 chromosomes in 23 pairs, half from each parent. Down syndrome usually occurs when a genetic accident results in the egg or sperm having an extra copy of chromosome 21. A person who inherits this extra copy of chromosome 21 has Down syndrome. Rarely, Down syndrome results from an inherited genetic abnormality or an accident in cell division after fertilization. Down syndrome affects one out of every 800 to 1,000 babies born. Parents who have already had a baby with Down syndrome, people with an inherited rearrangement of chromosome 21 and women over 35 are at increased risk of having a baby with Down syndrome. However, most babies with Down syndrome are born to mothers under age 35. There are screening tests to estimate a pregnant woman's chances of having a baby with Down syndrome and diagnostic tests that can determine whether or not the fetus has it. The screening tests are blood tests done between the 15th and 20th week of pregnancy. Their results are not always reliable. Diagnostic tests include chorionic villus sampling (or CVS), amniocentesis and percutaneous umbilical blood sampling (or PUBS). They involve taking samples from the placenta or umbilical cord and slightly increase the risk of miscarriage, but are about 98 to 99 percent accurate in the detection of Down syndrome.

36. Ultrasound Testing In Diagnosing Down's Syndrome Association. 1 down's syndrome is a genetic disorder; babies with down'ssyndrome usually have three copies of chromosome 21. Mental http://www.helioshealth.com/cgi-bin/news/news.cgi?352

37. Science Teacher Genetics Resources a variety topics relating to down's syndrome. A great resource fora student doing a genetic disorder report on down's syndrome. http://schoolscience.rice.edu/duker/scitegeneticsres.html

Genetics Web Sites Down's Syndrome WWW Page http://nas.com/downsyn/ The Down's Syndrome WWW Page is an excellent resource to learn about Down's Syndrome. This web site contains information about this genetic disorder, treatments available, information on support groups, and many recently published articles dealing with a variety topics relating to Down's Syndrome. A great resource for a student doing a genetic disorder report on Down's Syndrome. Lawrence Livermore National Laboratory's Human Genome Center http://www-bio.llnl.gov/bbrp/genome/genome.html This web site contains an overview of the work being done at the Lawrence Livermore National Laboratory's Human Genome Center. Maps of chromosome 19, FISH images, DNA sequencing, instrumentation for the Human Genome Project and other genetic biotechnology information can be found here. OMIM Home Page - Online Medelian Inheritance In Man http://www3.ncbi.nlm.nih.gov:80/Omim/ This web site contains a catalog of human genes and genetic disorders. Included are textual information, pictures, and reference information. This site contains links to NCBI's Entrez database of MEDLINE articles. Excellent search engine. The Internet Pathology Laboratory http://www-medlib.med.utah.edu/WebPath/webpath.html

38. National Down Syndrome Society See an overview of the National down syndrome Society, a nonprofitorganization devoted to the genetic disorder. http://www.babycenter.com/refcap/baby/babydevelopment/1446.html

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; Search Articles Store Already a member? Log in Home Baby Development highlights ... Development index Baby Development National Down Syndrome Society What's below: Overview Resources available For more information Other Sources Overview National Down Syndrome Society (NDSS) is a nonprofit organization devoted to increasing public awareness about Down syndrome, helping families with children that have the genetic disorder , and encouraging and supporting research. NDSS's mission is to provide education, advocacy, and research. The organization works to dispel myths about Down syndrome and helps those who have it live productive lives. It answers questions about the disorder, provides fact sheets, supports conferences, and helps parents find a support group in their area. Resources available There is no membership fee, but donations are encouraged. A comprehensive information packet is available at no charge. In addition to the NDSS's general information, the packet includes brochures on education, research and advocacy; endocrine conditions in and the neurology of Down syndrome; speech and language skills in children and adolescents with Down syndrome; Down syndrome and Alzheimer's disease, the heart, sexuality, life planning. NDSS also has books, brochures, videos and newsletters available to order.

39. Prenatal Genetic Counseling their 20s have a 1 in 1,250 chance of having a baby with down syndrome. partner, yourchildren, or any other family member has a genetic disorder, birth defect http://www.babycenter.com/refcap/pregnancy/prenatalhealth/1607.html

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; Search Articles Store Already a member? Log in Home Pregnancy Prenatal Health highlights ... Prenatal Health index Prenatal Health Prenatal genetic counseling Approved by the BabyCenter Medical Advisory Board What's below: What is a genetic counselor? Should I talk to a genetic counselor? What happens at a genetic counseling session? Are birth defects always genetically inherited? ... See also What is a genetic counselor? A genetic counselor is a medical professional with a special postgraduate degree who can help you sort through complex information about your chances of having a child with a genetic disorder or birth defect as well as the testing and treatment options available to you. You may already have met with a genetic counselor before your pregnancy if you were concerned about any risk factors that you have for having a child with this kind of problem. His or her role is to translate the technical scientific information you need to understand to make informed choices and to help you sort out your feelings so that you can decide what's right for you and your family. Should I talk to a genetic counselor?

40. Down Syndrome Research after Dr. Jérôme Lejeune discovered that people with down syndrome have an and neurologicaldisabilities associated with this genetic disorder remain unknown http://www.mhdsa.org/ResearchCosta.htm

Why Do We Need Research in Down Syndrome Why Do We Need More Support for Research in Down Syndrome? Research Announcement Clinical Trial for Young Adults with Down Syndrome Why Do We Need More Support for Research in Down Syndrome? Alberto Costa, M.D., Ph.D., Eleanor Roosevelt Institute About two months ago, under the sponsorship of the MHDSA, I presented a seminar at the Eleanor Roosevelt Institute entitled: "In Search of a Pharmacotherapy for Down Syndrome." The goals of that talk were to share with other parents some of the recent research findings from my laboratory, as well as to review some of the current ideas on the nature of Down syndrome. I also took the opportunity to voice my opinions on the origins of the disproportionally poor funding for Down syndrome research compared to other disorders that lead to intellectual disabilities. Therefore, I was pleasantly surprised to see that one of the consequences of that seminar was to fire up the interest of many of the parents not only for Down syndrome research but also for the issue of funding for Down syndrome research This newly found or rediscovered interest is eloquently reflected by Anne Simpson's article in the last issue of the

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