41. Down Syndrome - Medco.com 1, ****down syndrome down syndrome is a genetic disorder. 2, ***down syndrome down syndrome is a chromosome abnormality, usually due to an extra copy of the http://www.medcohealth.com/medco/consumer/ehealth/ehskeywordsearch.jsp?topicID=D

42. Profiles.html Early deaths in down syndrome are sometimes due to leukemia, infection, or heart disease. General genetic disorder Resource Organizations http://www.accessexcellence.org/RC/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

43. Down Syndrome: Health Topics: UI Health Care down syndrome is a genetic disorder of our body s chromosomes. Most people have a total of 46 chromosomes. People with down syndrome have a total of 47. 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 Send comments and questions to staff@uihealthcare.com University of Iowa, Iowa City, Iowa Down syndrome Down syndrome is a genetic disorder of our body's chromosomes. Most people have a total of 46 chromosomes. People with Down syndrome have a total of 47. Down syndrome results from changes in the genetic material that creates the chromosomes and is the most common disorder of human chromosomes. It is usually diagnosed shortly after birth. The diagnosis is usually based on physical features. Eyes often have a slant to the openings and extra skin at the middle corner. The mouth tends to stay open with the tongue sticking out. Muscle tone is usually low, making the arms and legs more relaxed. People diagnosed with Down syndrome are mentally disabled. Many people also 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 than the father's. The chance of having a Down syndrome baby 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. Rarer causes of Down syndrome are heredity or long term exposures to 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.

44. Your Child | Genetic Syndromes What are genetic syndromes? A syndrome is a disease or disorder that has more This book covers down, Williams, Fragile X, and PraderWilli syndromes, http://www.med.umich.edu/1libr/yourchild/genetic.htm

YOUR CHILD HOME Your Child Topics UMHS HOME Genetic Syndromes What causes genetic disorders? Each cell in the human body contains 23 pairs of chromosomes . You inherit one set of the pair from your father and one set from your mother.  Each chromosome is made up of many genes , about 2,000 in each chromosome, for a total of 50,000 genes in each cell.  These genes make all the proteins in the body, which promote development and growth, and carry out all body functions. When one or more of these genes or chromosomes are missing or mutated , or if extra chromosomes are present, the proteins may not get made, may be made incorrectly, or too many may be made.  Any of these situations can cause abnormal development and growth and can result in a genetic syndrome .  Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason. For help in understanding the terms used in genetics, see the

45. Pediatric Advisor 2005.2: Down Syndrome down syndrome is a genetic disorder. Most people have a total of 46 chromosomes. Most children with down syndrome have a total of 47 chromosomes. http://www.med.umich.edu/1libr/pa/pa_downsynd_hhg.htm

Pediatric Health Topics All Health Topics Mott Children's Hospital Pediatric Services ... Find a UMHS Doctor Search Pediatric Topics Search All Topics This information is approved and/or reviewed by U-M Health System providers but it is not a tool for self-diagnosis or a substitute for medical treatment. You should speak to your physician or make an appointment to be seen if you have questions or concerns about this information or your medical condition. Index Resource List Down Syndrome What is Down syndrome? Down syndrome is a genetic disorder which means that there is a problem with a person's chromosomes. Most people have a total of 46 chromosomes. Most children with Down syndrome have a total of 47 chromosomes. Down syndrome results from this extra genetic material. Scientists are still learning about what causes this extra genetic material and exactly how it causes the problems of Down syndrome. Down syndrome is the most common disorder of human chromosomes. It is usually diagnosed shortly after birth during a baby's first physical exam. How is it diagnosed?

46. Genetics WWW Resources Selected genetics Web Sites. down s syndrome WWW Page A great resource for a student doing a genetic disorder report on 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

47. Virtual Children's Hospital: CQQA: Down Syndrome down syndrome is a genetic disorder. It is caused by a birth defect. It is more likely to affect babies born to mothers age 35 or older. 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

48. National Down Syndrome Society: News And Events: Science & Research News down syndrome is a genetic disorder that affects the brain and many other body systems. It occurs in about one of 800 births. http://www.ndss.org/content.cfm?fuseaction=NwsEvt.Article&article=1087

49. Department Of Human Genetics, School Of Medicine, Emory University : Pediatric A General genetics clinic Metabolic genetics clinic down syndrome clinic Gaucher disease was the first genetic disorder treated effectively with enzyme http://www.genetics.emory.edu/genservices/peds_adult_genetic_services.php

Pediatric and Adult Genetic Clinics Pediatric Genetic Evaluations Approximately three percent of all living newborns have a birth defect or health problem. These conditions may be evident shortly after birth or later in the child's life. A study published in 2004 in the American Journal of Human Genetics found that a significant genetic component was found in 71% of children admitted to pediatric hospitals (AJHG 74:121-127, 2004). Children who are not reaching developmental milestones or have characteristics of a genetic condition may be referred to one of Emory Genetics' Specialty or General Pediatric Genetics Clinic. Specialty clinics are held for patients with Inherited Metabolic Disorders, Down Syndrome, Fragile X (coming soon), Neurofibromatosis, Lysosomal Storage Diseases, and Craniofacial Disorders. Appointments are scheduled at the Emory Children's Center, located on the campus of Emory University, and at Children's Healthcare of Atlanta at Scottish Rite Hospital. Families meet with a team of genetic professionals, including an M.D. Clinical Geneticist. Scroll down for more information on an individual clinic. birth defect, or suspected birth defect

50. Genetic Link To Down Syndrome Gets Murkier A mouse study by Johns Hopkins researchers finds the disorder isn t tied to that the genetics of down syndrome aren t as simple as has been thought, http://www.healthfinder.gov/news/newsstory.asp?docID=521888

51. Epilepsy Ontario :: Down Syndrome And Epilepsy (Sharing) down syndrome is a genetic disorder that is caused by the presence of an extra set of genes, on chromosome 21. Thus, it is often referred to as Trisomy 21, http://epilepsyontario.org/client/EO/EOWeb.nsf/web/Down syndrome and Epilepsy (S

Sections Epilepsy Ontario Contact EO The Organization Our Resource Centre Epilepsy NEWS Announcements 'Sharing' News Epilepsy Information About Epilepsy Seizures Medications First Aid ... WWW Links Get Involved Local Chapters Provincial Programs Funding Volunteer Opportunities ... Direct Donation Products Helmets Epilepsy Monitoring Systems Glad Cards More... ... Site Map 'Sharing' News :: (20-1) Spring 2004 'Sharing' News (20-1) Spring 2004 Down syndrome and Epilepsy (Sharing) Natural Remedies Get a New Look ... Epilepsy and AEDs May Affect Mens Fertility Down syndrome and Epilepsy Definition Down syndrome, also known as trisomy 21 syndrome, is a chromosomal disorder that is caused by the presence of extra chromosome 21 material in the "blueprint" of the body. The combination of birth defects present in individuals with DS include heart defects, infection, vision and hearing problems, and many other health problems (10). It also causes delays and limitations in physical and intellectual development (6). Brief History Starting at the early 20th century, researchers began to look into the causes of Down syndrome. In the 1930s, Waardenberg and Bleyer first speculated that Down syndrome is due to chromosomal abnormalities (11). However, it was not until 1959 that Jerome Lejeune and Patricia Jacobs individually determined the cause to be the trisomy (triplication) of the 21st chromosome (11). In the next three years, translocation and mosaicism were also described (11).

52. Living With A Genetic Disorder - Down Syndrome - The GEEE! In GENOME Melanie has down syndrome, which means that she has 47 chromosomes in each cell instead of 46. down syndrome is a chromosomal disorder that occurs in http://www.nature.ca/genome/03/d/10/03d_14d_e.cfm

Living with a genetic disorder Don't be shy ... Say hi! What Is Down Syndrome? Melanie Manion has Down syndrome, which means that she has 47 chromosomes in each cell instead of 46. In Down syndrome, three, rather than the normal two, chromosomes 21 are present in each cell. An abnormal number of chromosomes is the result of "nondisjunction": paired copies of a particular chromosome fail to separate at cell division, and so two copies of a chromosome are placed in a sperm or egg, rather than one. If fertilized, this sperm or egg will produce an embryo with an extra copy of the chromosome in each cell. Genetic diseases Cloning and stem cells Genetically modified organisms (GMOs) DNA detectives In this section: Defective genes Genetic testing New treatments Living with a genetic disorder A karyotype is a display of the chromosomes within a single cell. The chromosomes are stained with dyes to accentuate differences between them. In this Down syndrome karyotype , the chromosomes have been arranged in their pairs. Note the extra copy of chromosome 21.

53. Chromosomal Aberrations In Children With Suspected Genetic Disorders All the patients were subjected to a full genetic study; Because it is a common and familiar disorder, down syndrome has been studied much more http://www.emro.who.int/Publications/EMHJ/0301/17.htm

Eastern Mediterranean Health Journal Back to Health Journal page Health Journal back issues Home Chromosomal aberrations in children with suspected genetic disorders Volume 3, Issue 1, 1997, Page 114-122 Mohamed M. Mokhtar 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 counselling. Les aberrations chromosomiques chez les enfants suspects de troubles génétiques Resume Un cariotype a été réalisé chez 137 enfants suspects d'anomalies chromosomiques telles les syndromes génétiquement incertains, les anomalies congénitales multiples, le retard statural, les traits de dysmorphie, l'arriération mentale non classifiée et le syndrome de Down. Au total, 53 enfants avaient un cariotype anormal: trisomie 21 (36; 26,3%), trisomie 18 (3; 2,2%), trisomie 13 (1; 0,7%), hétéroploïdie autosomique partielle (5; 3,6%), inversion péricentrique du chromosome 9 (2; 1,5%), marqueur chromosomique (2; 1,5%) et aberrations des chromosomes sexuels (4; 2,9%). Tous présentaient une hétérogénéité phénotypique et cytogénétique. Ces résultats laissent penser que l'analyse cytogénétique est utile dans les investigations réalisées chez les enfants ayant des troubles génétiques d'origine inconnue afin de confirmer le diagnostic clinique et de permettre le conseil génétique approprié.

54. Kennedy Krieger Institute Genetic Disorders genetic disorders are caused by alterations in the genetic code carried by down syndrome, a disorder producing mental retardation due to an extra copy http://www.kennedykrieger.org/kki_diag.jsp?pid=1087

55. Genetic Disorders: The Links To Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. http://www.ctds.info/genetic_disorders.html

Con nective Tissue Disorder Home Search Site Map ... Links Genetic Disorders The Links to Diet Read my Contents: Overview Genetic Disorders and Birth Defects Treatable Through Diet Prenatal Nutrition and Birth Defects Genetic Disorders, Birth Defects and Logic ... General Information on Genes, Nutrition and Disease Overview Many researchers and support groups state that birth defects and genetic disorders, especially connective tissue disorders such as Marfan syndrome osteogenesis imperfecta and Ehlers-Danlos syndrome , can't possibly be cured through diet because they are inherited genetic disorders. This conclusion is invalid simply because many birth defects and inherited genetic disorders have been found to be improved, or even cured, through diet. The old school of thinking that a birth defect or inherited disorder had to be caused by a single gene is no longer widely held in medical circles. The breakthrough concept in research is that many birth defects and inherited disorders are influenced by both genes and environmental factors, especially nutrition. Genes may make people susceptible to certain defects and disorders, but they are often only a part of the picture. "Genes are not necessarily destiny. They are influenced by the chemistry of what we consume." - article on

56. Ontario - Kohai Educational Centre A nondenominational, co-educational centre providing intensive remedial education for students with neurodevelopmental and genetic disorders (PDD, Autism, down syndrome, LD, ADD, ADHD)from age 2 to adult. http://www3.sympatico.ca/kohai

57. Genetic Conditions / Rare Conditions Information Site Information on genetic conditions and birth defects for professionals, trisomy 18, tetrasomy 18p, Edwards), 20, 21 (down syndrome, trisomy 21), 22, http://www.kumc.edu/gec/support/

Genetic and Rare Conditions Site Medical Genetics, University of Kansas Medical Center Lay advocacy and support groups, information on genetic conditions /birth defects for professionals, educators, and individuals, National and International organizations · Categories Genetic Counselors and Geneticists Children and teen sites Advocacy ... Z Revised September 2, 2005 Aarskog syndrome Achondroplasia Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome ... Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, spinocerebellar ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia, other) Autism / Asperger syndrome Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind (vision anomalies) Brain Conditions / Disorders Branchio-Oto-Renal (BOR) syndrome Canavan Cancer ataxia telangiectasia ... Celiac sprue dermatitis herpiformis, gluten intolerance Charcot-Marie-Tooth peroneal muscular atrophy, hereditary motor sensory neuropathy

58. Prevalence Of Genetic Conditions / Birth Defects Prevalence and Patterns of Presentation of genetic Disorders in Pediatric down syndrome (1/600 live births and increases with advanced maternal age) http://www.kumc.edu/gec/prof/prevalnc.html

Prevalence of Genetic Conditions / Birth Defects A variety of references Though individual genetic disorders are rare, collectively they comprise over 15,500 recognized genetic disorders (McKusick VA. 1994. Mendelian Inheritance in Man: A Catalog of Human Genetics and Genetic Disorders, 11th Edition. Baltimore: The Johns Hopkins University Press [OMIM current statistics Morbid Map (conditions linked to chromosome loci)] and Borgaonkar DS. 1994. Chromosomal Variation in Man. 7th Edition. New York: Wiley-Liss) and affect 13 million Americans infants hospital admissions mental retardation chronic adult ... referrals Infant deaths 3-5% of all births result in congenital malformations (Robinson A. and Linden MG. 1993. Clinical Genetic Handbook, Boston, Blackwell Scientific Publications) 20-30% of all infant deaths are due to genetic disorders (Berry RJ, Buehler JW, Strauss LT, et al. 1987. Birth weight-specific infant mortality due to congenital abnormalities, 1960 and 1980. Public Health Report 102:171-81) 30-50% of post-neonatal deaths are due to congenital malformations (Hoekelman RA, Pless IB. 1988. Decline in mortality among young American during the 20th century: Prospects for reaching national mortality reduction goals for 1990. Pediatrics 82:582-95)

59. Down Syndrome - Wikipedia, The Free Encyclopedia down syndrome is a term used to encompass a number of genetic disorders of which trisomy 21 is the most frequent (95% of cases). Trisomy 21 is the existence http://en.wikipedia.org/wiki/Down_syndrome

60. Trisomy 18, 21, 13, Down Syndrome, Edward Syndrome, Results From Genetic Disorde The following pages describe several of the genetic disorders and foetal defects For example, down syndrome is known as Trisomy 21, this means that an http://www.paternityangel.com/Preg_info_zone/Disorders/GenDisorders_Intro.htm

Home Timeline Men's Info Personal_ Calendar ... Shopping Calculators... Due Date Calcs Weight Gain Calc Most Popular... Baby's Week-by-Week Development Baby's Development in Pictures Baby Names Database Sexual Relations During Pregnancy ... Becoming Pregnant (How it all happens) Navigation... Genetic Disorders and Foetal Defects Back To Home Page Introduction Trisomy 21 - Down Syndrome Trisomy 18, Edward Syndrome Trisomy 13, Patau Syndrome Neural Tube and Ventral Wall Defects ... Cri Du Chat Syndrome The following pages describe several of the genetic disorders and foetal defects that can be detected by using prenatal testing as described in the first part of this article Genetic Testing Options in Pregnancy Genetics: Every man and woman constitutes 23 pairs of chromosomes (a total of 46) including the one pair that is the main difference between the sexes, i.e. the sexual chromosomes. Half of an individual's chromosomes come from the mother and half from the father. These chromosomes contain the information that is used by the body to determine the pattern of growth that will be followed. The following shows a picture (called a Karyotype) that is used to define a standard genetic profile for humans. It shows 22 pairs plus the X and Y sex chromosomes.

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