21. Science Teacher Genetics Resources a variety topics relating to down s syndrome. A great resource for a 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

22. Kennedy Krieger Institute Genetic Disorders down syndrome, a disorder producing mental retardation due to an extra copy of chromosome 21, is an example of a disorder that is genetic, but not inherited. http://www.kennedykrieger.org/kki_diag.jsp?pid=1087

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

24. MayoClinic.com - Down Syndrome down syndrome is a genetic disorder that results in varying degrees of physical and mental retardation. The condition varies in http://secure.mayoclinic.com/invoke.cfm?id=DS00182

25. Down Syndrome --  Encyclopædia Britannica second most common cause of mental retardation after down s syndrome; males mainly affected, but females can be carriers; 1 , genetic disorder Diseases or http://www.britannica.com/eb/article?eu=31605&tocid=0&query=pendred's syndrome

26. Down Syndrome Causes. down syndrome is one of the most common genetic birth defects. Approximately 1 in 800 to 1 in 1,000 babies are born with the disorder. http://ww3.komotv.com/global/story.asp?s=1230364

27. USA Today-Health Library Causes and Risk Factors down syndrome is one of the most common genetic birth defects Approximately 1 in 800 to 1 in 1,000 babies are born with the disorder. http://www.healthscout.com/ency/68/449/main.html

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28. Virtual Children's Hospital: CQQA: Down Syndrome What is down syndrome? down syndrome is a genetic disorder. What causes it? Quick Answers. down syndrome is a genetic disorder. It is caused by a birth defect. http://www.vh.org/pediatric/patient/pediatrics/cqqa/downsyndrome.html

Pediatrics Common Questions, Quick Answers Down Syndrome Donna D'Alessandro, M.D. Lindsay Huth, B.A. Peer Review Status: Internally Reviewed Creation Date: May 2002 Last Revision Date: May 2002 Common Questions, Quick Answers What is Down syndrome? What causes it? Who can get it? ... Can it be prevented? What is Down syndrome? Down syndrome is a genetic disorder. What causes it? It is caused by a birth defect. The most common birth defect is when an infant is born with an extra chromosome. Chromosomes carry genes. Genes are the body's plan for growth and development. The extra gene affects the child's physical and cognitive (thinking) development. Who can get it? It can affect any infant. Babies born to mothers who are age 35 or older are at higher risk for Down syndrome than babies born to younger mothers. Parents who have had one child with Down syndrome are more likely to have another child with Down syndrome. What are the signs? Many signs are noticeable at birth. Children with Down syndrome will have at least some of these signs. They can include: Low muscle tone Small nose with a flat bridge Upward slant to the eyes Small ears Deep crease along the center of the palm Flexible joints Small hands, short fingers

29. 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

30. Medical Genetics - Down Syndrome (Trisomy 21) down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features http://www.musckids.com/health_library/genetics/downs.htm

Home About Us Departments Send an e-Card ... Your Hospital Visit 171 Ashley Ave. Charleston, SC 29425 800-424-MUSC Print Version Medical Genetics Down Syndrome (Trisomy 21) What are trisomies? The term "trisomy" is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have "trisomy 21." Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) present in each cell of the body, rather than the usual pair. What is Down syndrome? Down syndrome is a genetic disorder that includes a combination of birth defects, including some degree of mental retardation, characteristic facial features and, often, heart defects, visual and hearing impairment, and other health problems. The severity of all of these problems varies greatly among affected individuals. Down syndrome is one of the most common genetic birth defects, affecting approximately one in 800 to 1,000 babies. In this country, there are more than 350,000 individuals with Down syndrome, according to the National Down Syndrome Society. Life expectancy among adults with Down syndrome is about 55 years, though average lifespan varies. The name "Down syndrome" comes from the physician, Dr. Langdon Down, who first described the collection of findings in 1866. It was not until 1959 that the cause of Down syndrome (the presence of an extra #21 chromosome) was identified.

31. Down Syndrome: Health Topics: UI Health Care 19992004, University of Iowa. down syndrome. down syndrome is a genetic disorder. In almost all cases, it is not passed down through families. http://www.uihealthcare.com/topics/geneticsbirthdefects/gene4593.html

Health Topics Category Index Health Topics for Genetics and Birth Defects Medical Genetics in Pediatrics Division of Medical Genetics ... Iowa Birth Defects Registry - UI Health Care's digital library Read this month's health-e-newsletter Send comments and questions to staff@uihealthcare.com University of Iowa Down Syndrome Down syndrome is a genetic disorder. In almost all cases, it is not passed down through families. Instead, it is the result of a single faulty egg or sperm. Persons with Down syndrome are mentally disabled. They have somewhat flat facial features and slanted eyes. Many affected persons have heart defects and other disorders. The chance of having a baby with Down syndrome rises as parents get older. It depends more on the mother's age. The chance goes up quickly when the mother is over 34 years. It also goes up when the father is over 60 years of age. This suggests that the main cause of the disorder is the aging of egg cells or lifelong exposures, such as radiation or viruses. A young mother who has one child with Down syndrome has about a 2 in 100 chance of having another. An older mother will continue to have about the same chance for her age.

32. Learning Disorder Gene In Down Syndrome Identified Learning disorder Gene in down syndrome Identified. BERKELEY, CA A major genetic factor contributing to mental retardation in down syndrome has been http://www.lbl.gov/Science-Articles/Archive/Down-DYRK-gene.html

Learning Disorder Gene in Down Syndrome Identified By Lynn Yarris, lcyarris@lbl.gov April 29, 1997 BERKELEY, CA A major genetic factor contributing to mental retardation in Down syndrome has been identified by researchers at the Ernest Orlando Lawrence Berkeley National Laboratory (Berkeley Lab). Working with transgenic mice that carry segments of human chromosome 21 in their DNA, the scientists have linked learning deficits to DYRK, a gene named for the protein it produces. Any deviation from the normal complement of two copies of this gene appears to impair the ability to learn. This research was led by Drs. Edward Rubin and Desmond Smith, geneticists with Berkeley Lab's Life Sciences Division. It has been reported in Nature Genetics (May 1, 1997). "We've demonstrated that DYRK is a gene for which dosage plays an important role in how neuronal pathways are put together," says Rubin, who heads biology research for Berkeley Lab's Human Genome Center. "Our work suggests that you need exactly two copies of DYRK for normal development." 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). Other symptoms are heart and intestinal defects, problems with the immune and endocrine systems, and a raft of tissue and skeletal deformities.

33. Medical Genetics - Down Syndrome down syndrome is a genetic disorder that involves a combination of features, including some degree of mental retardation, characteristic facial features and http://www.chkd.org/Genetics/downs.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmology Orthopedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. Down Syndrome What are trisomies? The term “trisomy” is used to describe the presence of three chromosomes, rather than the usual pair of chromosomes. For example, if a baby is born with three #21 chromosomes, rather than the usual pair, the baby would be said to have “trisomy 21”. Trisomy 21 is also known as Down syndrome. Other examples of trisomy include trisomy 18 and trisomy 13. Again, trisomy 18 or trisomy 13 simply means there are three copies of the #18 chromosome (or of the #13 chromosome) present in each cell of the body, rather than the usual pair. What is Down syndrome?

34. Genetics WWW Resources This web site contains information about this genetic disorder, treatments available articles dealing 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

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.capitalhealth.ca/Health Services/Health Topics/Disorders and Body Sys

Hospitals Capital Health Link Site Map Media Desk ... Quick Links Genetics/Birth Defects Capital Health Home Your Health Health Topics Disorders and Conditions - 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. Medical Library: down syndrome, a chromosomal disorder, is the most frequent genetic cause of mild to moderate mental retardation in the United States. http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZPANJFKJC&sub_cat=5

37. HealthCentral.com down syndrome is one of the most common genetic birth defects. Approximately 1 in 800 to 1 in 1,000 babies are born with the disorder. http://www.healthcentral.com/library/librarycontent.cfm?id=449

38. WHO EMRO - NON COMMUNICABLE DISEASES Suspected genetic disorder, Number of patient referred, Number of Patient abnormal. down syndrome. 36. 36. Edwards syndrome. 4. 3. Patau syndrome. 1. 1. http://www.emro.who.int/ncd/Genetics-egy-97.htm

Non-Communicable Diseases World Health Organization Regional Office for the Eastern Mediterranean Cancer Cardiovascular Diabetes Osteoporosis ... Chronic diseases Genetic diseases Egypt Chromosomal aberrations in children with suspected genetic disorders; Chromosomal aberrations in children with suspected genetic disorders Mokhtar, MM; EMHJ; 3: 1, 1997, 114-122 ABSTRACT; Karyotyping was done in 137 children suspected of having chromosomal abnormalities such as genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation and Down syndrome. A total of 53 (38.7%) had an abnormal karyotype: trisomy 21 (36; 26.3%), trisomy 18 (3; 2.2%), trisomy 13 (1; 0.7%), partial autosomal aneuploidy (5; 3.6%), pericentric inversion of chromosome 9 (2; 1.5%), marker chromosome (2; 1.5%), and sex chromosome aberrations (4; 2.9%). All of them showed phenotypic-cytogenetic heterogeneity. These findings suggest that cytogenetic analysis is useful in the investigation of children with genetic disorders of unknown origin to confirm clinical diagnosis and to allow for proper genetic counseling. Table 1, Genetic disorders in patients referred for cytogenetic studies

39. Blackwell Synergy - Cookie Absent down s syndrome a genetic disorder in biobehavioral perspective. down s syndrome is a genetic disorder that can lead to mental retardation of varying degrees. http://www.blackwell-synergy.com/links/doi/10.1034/j.1601-183X.2003.00026.x/full

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40. 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/faqs/00003167.htm

We subscribe to the HONcode principles. Verify here Down Syndrome Q: What is Down Syndrome?  How important is it for me to be screened for it when I’m pregnant? 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 mild to moderate mental retardation in the United States.  In addition, babies born with Down syndrome may have numerous medical problems, including: heart defects; speech, hearing, or vision problems; seizures; stomach or intestinal disorders; trouble swallowing; thyroid problems; bone and joint problems; and leukemia.  Early learning intervention programs are highly recommended. The only way to diagnose this disorder before birth is with an amniocentesis.  This procedure involves inserting a needle into the amniotic fluid under ultrasound guidance, withdrawing a small amount of fluid, and then testing it. This is usually recommended for mothers over the age of 35, when the risk of genetic abnormalities greatly increases OR for those parents who have a family history of any genetic abnormalities. Amniocentesis carries its own risks (notably the risk of miscarriage or infection), so it is not a procedure for all women. Another screening test is available a blood test for alpha-fetal protein, or AFP.  If this is abnormal, an ultrasound is recommended.  Women should know that an abnormal AFP should not be a cause for alarm as it has many false positive results.  Women should also know that an ultrasound exam alone is NOT a sufficient screening test for Down syndrome (

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