41. Inheritance Of Down Syndrome Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders down syndrome, genetic disorder http://101investor.com/z/retirement-planning/inheritance-of-down-syndrome.html

inheritance of down syndrome This topic is: inheritance of down syndrome Estate planning, retirement planning, estate taxes and inheritance of down syndrome . Make sure to do your planning for your retirement years early. Thanks for visiting our retirement planning and estate planning directory. Here are resources for inheritance of down syndrome Lancaster General Hospital - Mosaic Down Syndrome ... Health Library / Medical Genetics / Non-Traditional Inheritance / Mosaicism / Mosaic Down Syndrome . Mosaic Down Syndrome ... a baby is born with Down syndrome , the physician will take a ... http://www.lha.org/content/greystone_22356.asp Feeling Lucky ... Autosomal dominant inheritance : In this form of inheritance the genetic disorder can be ... autosomal recessive inheritance Downs syndrome Downs syndrome is due to an extra ... http://www.feelinglucky.org/docs/glossary.htm Broward Gold Coast Down Syndrome Links ... Connecticut Down Syndrome Congress. Down Syndrome Parent Network (E ... DS A description of Down Syndrome characteristics by Dr. Siegfried M. Pueschel. Online Mendelian

42. UNSW Embryo- Abnormal Development - Trisomy 21 (Down Syndrome) dysmorphic or metabolic disorders or a family history of serious genetic disorder; New triple screen test for down syndrome combined urine analytes and serum http://anatomy.med.unsw.edu.au/cbl/embryo/Defect/page21.htm

UNSW Embryology Abnormal Development - Trisomy 21 (Down Syndrome) Acknowledgements Introduction The frequency of trisomy 21 in the population is approximately 1 in 650 to 1,000 live births. The image on the right showns isolated chromosomes from a male trisomy 21 (red arrow shows extra chromosome 21). Recent attention has focussed on screening for Down's syndrome (mainly in terms of cost and efficiency) during fetal life with over 350 articles in the medical literature in just the past five years. There is also a high correlation of increased occurance with an increase in maternal age. ( see table below See also local copy of OMIM List for Trisomy 21 and specific Trisomy 21 entry Mother's Age and Risk of Having a Baby With a Chromosomal Abnormality (see references) Age of Mother Risk of Down Syndrome Risk of Any Chromosomal Abnormality 1 in 1667 1 in 526 1 in 1667 1 in 526 1 in 1429 1 in 500 1 in 1429 1 in 500 1 in 1250 1 in 476 1 in 1250 1 in 476 1 in 1176 1 in 476 1 in 1111 1 in 455 1 in 1053 1 in 435 1 in 1000 1 in 417 1 in 952 1 in 384 1 in 909 1 in 384 1 in 769 1 in 323 1 in 625 1 in 286 1 in 500 1 in 238 1 in 385 1 in 192 1 in 294 1 in 156 1 in 227 1 in 127 1 in 175 1 in 102 1 in 137 1 in 83 1 in 106 1 in 66 1 in 82 1 in 53 1 in 64 1 in 42 1 in 50 1 in 33 1 in 38 1 in 26 1 in 30 1 in 21 1 in 23 1 in 16 1 in 18 1 in 13 1 in 14 1 in 10 1 in 11 1 in 8 References Hook EB.

43. National Down Syndrome Society General Info Tabs_InfoRes.gif down syndrome Myths and Truths, Myth down syndrome is a rare genetic disorder. Truth down syndrome is the most commonly occurring genetic condition. http://www.ndss.org/content.cfm?fuseaction=InfoResGeneralArticle&article=29

44. BBC News | Health | Safe Blood Test For Down's Syndrome Under Development Common disorder. down s syndrome is one of the most common genetic disorders, affecting about one in every 600 newborn babies. Children http://news.bbc.co.uk/hi/english/health/newsid_125000/125596.stm

Front Page World UK UK Politics ... Help Friday, July 3, 1998 Published at 12:13 GMT 13:13 UK Health Safe blood test for Down's Syndrome under development A simple blood test may soon diagnose Down's Syndrome A safe and simple blood test may in future be able to determine quickly whether a woman is pregnant with a Down's Syndrome baby. Researchers from Birmingham have developed a DNA test for the condition that cuts the normal diagnosis time from about 15 days to just one day, and removes the need for risky amniocentesis techniques. Common disorde r Down's syndrome is one of the most common genetic disorders, affecting about one in every 600 newborn babies. Children born with the disorder have short stature, small heads and mild to severe mental retardation. The most common pre-natal test for Down's syndrome involves amniocentesis, in which a sample of the fluid that surrounds the foetus is collected. To do this the amniotic sac must be pierced, which can be risky. Cells in the fluid must then be cultured in a laboratory, which takes about 15 days and requires considerable expertise. Amplified DNA The new test uses a technique for copying very small amounts of DNA called polymerase chain reaction (PCA). The process allows DNA to be "amplified" so tell-tale genetic markers can be recognised.

45. Lexington Herald-Leader | 10/28/2003 | Scientists Target Down Syndrome Most people know down syndrome is a genetic disorder that causes irreversible mental retardation. But that description may not be true in the future. http://www.kentucky.com/mld/kentucky/living/health/7100068.htm

Search: Articles-last 7 days Articles-older than 7 days The Web for News Business Sports Entertainment ... Homes var request_url = escape(document.location.href); var request_domain = ".kentucky.com"; Place an Ad Subscribe Newspaper Ads Contact Us ... Weather Lexington Jackson Louisville Local Events Yellow Pages Discussion Boards Back to Home ... Living Tuesday, Jun 08, 2004 Health and Family email this print this Posted on Tue, Oct. 28, 2003 Scientists target Down syndrome By Shari Roan LOS ANGELES TIMES Most people know Down syndrome is a genetic disorder that causes irreversible mental retardation. But that description may not be true in the future. Scientists have pounced on the revolutionary idea that Down syndrome the most common genetic cause of mental retardation can be treated. First, they must understand the biological cause of the condition, down to the specific genes responsible for the varied symptoms. Then, they hope, they'll be able to reverse or eliminate related problems with cognitive function, memory, speech, sleep and even the neurological decline that occurs in older adults with the disorder. Scientists at Stanford University Medical Center already have identified abnormalities in the nerve cell structure of people with Down syndrome, differences that appear to be responsible for much of the brain damage that is the hallmark of the disorder. They're now trying to home in on the genes that cause that particular abnormality.

46. Japan Today - News - New Test Detects Down S Syndrome In Embryos down s syndrome is a common genetic disorder that is usually diagnosed when a foetus is about 16 weeks old using amniotic fluid taken from the pregnant woman. http://www.japantoday.com/gidx/news40207.html

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47. InteliHealth: In Down Syndrome Expected Duration. down syndrome is a genetic disorder due to the presence of an extra chromosome in each cell. This condition continues throughout life. http://www.intelihealth.com/IH/ihtIH/WSIHW000/9339/10332/210336.html?d=dmtHealth

48. HON Mother Child Glossary, Down Syndrome down syndrome is a chromosomal disorder caused by an error in cell division, when a fertilised ovum Three genetic variations can cause down syndrome http://www.hon.ch/Dossier/MotherChild/birth_disorders/down_syndrome.html

49. Genetic Disorders down syndrome A genetic disorder caused by the presence of an extra chromosome and characterised by mental Retardation, abnormal facial features, and medical http://www.bsrt.org.uk/genetic_disorders.htm

The Genetic Code Genetic Disorders Dominant Gene Disorders Recessive Gene Disorders. Batten Disease/JNCL Fall's into this category X-Linked Gene Disorders Chromosomal Disorders Multifactorial Disorders Other Defects ... Glossary Genetics The Genetic Code: Genetic Disorders: Genetic disorders may be caused by problems with either genes or chromosomes. A person may have a genetic disorder that may not be visible or may carry a disorder without knowing it. Some disorders can be inherited if only one parent carries the gene. Some occur at random. Even if a couple has had a normal baby, if they are at risk for having a baby with a genetic disorder, they are at risk with each pregnancy. Dominant Gene Disorders A dominant genetic disorder can be caused by a single abnormal gene from either parent. Even though one member of the gene pair is normal, the abnormal gene overrules the normal gene, or is dominant. Some of these disorders are: · If one parent has a dominant gene disorder, there is a 50% chance that it will be passed to each child.

50. Down's Syndrome down s syndrome. (Trysomy 21). Disease type genetic disorder Chromosome 21 Pathology. Almost certainly extremely complex and not due to a single error. http://www.diseasedir.org.uk/genetic/gene2101.htm

Down's Syndrome (Trysomy 21) Disease type: Genetic Disorder Chromosome : Pathology Almost certainly extremely complex and not due to a single error. Aetiology As mothers get older the chance of a Down's Syndrome child increases. Down's Syndrome seems to be caused by errors in Meiosis (production of Gametes). Inheritance Not usually inherited from sufferers as they are usually sterile. Originates with the mother, there are two types. The first error is caused during separation of the cells in Meiosis, and one of the chromosomes accidentally ends up on the wrong side of the envelope, resulting in a gamete with two chromosome 21's. The second type of error occurs during crossing-over (Where the Chromosomes 'cross-over' transfer their genetic code with the other chromosome.) in meiosis, and a limb from the corresponding chromatid 21 remains attached, resulting in a chromatid that has an extended limb, with duplicates of some of the chromosome 21 genes. This acts essentially the same as if there was a third chromatid. Symptoms Fifteen times more likely to contract Leukemia.

51. Trisomy 21: The Origin Of Down Syndrome A description of Trisomy 21 (down syndrome) by Len Leshin, M.D., F.A.A.P. fire in the early 1960s from Asian genetic researchers, and the term was dropped from and Fisher EMC. down syndrome http://www.ds-health.com/trisomy.htm

Last Updated: Sept 2000 Trisomy 21: The Story of Down Syndrome by Len Leshin, MD, FAAP A Brief History The formal story began in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation. Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as "Mongoloids." Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development. This ethnic insult came under fire in the early 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," while it still is called "Down's" in the UK and some places in Europe. In the first part of the twentieth century, there was much speculation of the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s. But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy (triplication) of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism (see definitions of these below) were described over the next three years.

52. 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

53. Trisomy 18, 21, 13, Down Syndrome, Edward Syndrome, Results From Genetic Disorde genetic Disorders and Foetal Defects. Introduction. Trisomy 21 down syndrome. Trisomy 18, Edward syndrome. Trisomy 13, Patau syndrome. 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.

54. Genetic Disorders - Information / Diagnosis / Treatment / Prevention genetic Disorders DiGeorge syndrome, genetic Disorders down syndrome. genetic Disorders Dubowitz syndrome, genetic Disorders Ectodermal Dysplasia. http://www.healthcyclopedia.com/genetic-disorders.html

Home Health cyclopedia All Topics by Category The Complete Guide to Health Care Resources on the Internet Health Conditions A-Z Gurus ... Contact Us Genetic Disorders Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Subtopics Related Topics Health Portals Health News ... Web Directory: Subtopics: Genetic Disorders > Aarskog Syndrome Genetic Disorders > Aase Syndrome Genetic Disorders > Ablepharon-Macrostomia Syndrome Genetic Disorders > Alagille Syndrome Genetic Disorders > Alkaptonuria Genetic Disorders > Alpha-1 Antitrypsin Deficiency Genetic Disorders > Batten Genetic Disorders > Beckwith-Wiedemann Syndrome Genetic Disorders > Coffin Lowry Syndrome Genetic Disorders > Costello Syndrome Genetic Disorders > Cowden Syndrome Genetic Disorders > Craniofrontonasal Dysplasia Genetic Disorders > Crigler-Najjar Syndrome Genetic Disorders > Cystic Fibrosis Genetic Disorders > DiGeorge Syndrome Genetic Disorders > Down Syndrome Genetic Disorders > Dubowitz Syndrome Genetic Disorders > Ectodermal Dysplasia Genetic Disorders > Familial Hypercholesterolemia Genetic Disorders > Fatty Oxidation Genetic Disorders > Floating-Harbor Syndrome Genetic Disorders > Fragile X Syndrome Genetic Disorders > Glutaricaciduria Genetic Disorders > Hailey-Hailey Disease Genetic Disorders > Hemihypertrophy Genetic Disorders > Hemochromatosis Genetic Disorders > Hereditary Angioedema Genetic Disorders >

55. Genetic Disorders And Syndromes information and links from the down syndrome Educational Trust EhlersDanlos syndrome Support Group UK from the printed journal Genetics - BMJ collected http://www.healthcentre.org.uk/hc/pages/inherited.htm

Genetic Disorders and Syndromes see also: inborn errors of metabolism national local international UK National Resources 22q11 Group - information and support for Velo-Cardio-Facial Syndrome (VCFS) , Di George Syndrome and Shprintzen Syndrome Aarskog Syndrome Support Group - information Alpha-1 Support - support for people suffering from alpha-1 antitrypsin deficiency Androgen Insensitivity Syndrome Support Group - information and support Annals of Human Genetics - journal British Society for Human Genetics - information about the society and its services Brittle Bone Society - help, advice and information to people affected by oteogenesis imperfecta BUBL Information Service - genetics resources, Bath University Children's Mitochondrial Disease Network Cri Du Chat Syndrome Support Group - information and links Cystic Fibrosis Medicine - educational web site for patients and medical professionals Cystic Fibrosis Resource Centre - information for cystic fibrosis patients, parents, doctors and other carers from Solvay Healthcare Cystic Fibrosis Trust - national charity dealing with cystic fibrosis Diagnostics - National electronic Library for Health Down's Syndrome Association - support parents and carers Down's Syndrome Research Foundation - parents helping parents to get research for their children DownsNet - information and links from the Down Syndrome Educational Trust - parents helping parents to get research for their children

56. Ask NOAH About: Genetic Disorders OtoRenal (BOR) syndrome Cancer Genetics Cephalic Disorders Cerebral Palsy Corneal Dystrophy Cystic Fibrosis Diabetes down syndrome Ehlers-Danlos http://www.noah-health.org/english/illness/genetic_diseases/geneticdis.html

Ask NOAH About: Genetic Disorders Ask NOAH About: Genetic Disorders is a work-in-progess on diseases that have a known or suspected genetic origin. This page will attempt to keep pace with the the Human Genome Project's published breakthoughs on genetic medicine. If the genetic disorder you need information on is not listed here, please try the NOAH search engine . For information on basic genetics, please visit Ask NOAH About: Genetics, Genomes, Cell Biology, and Cloning What are Genetic Disorders? Genetics Basics The Basics Glossaries Children ... Living with Genetic Diseases Specific Conditions Achromatopsia Adrenoleukodystrophy Aicardi Syndrome Albinism/Hypopigmentation ... Information Resources What Are Genetic Disorders? Genetics Basics The Basics Birth Defects - Merck Manual, 2nd Home Edition Birth Defects - March of Dimes (NOAH PROVIDER) (also in Spanish Changes to Chromosomes - New South Wales Genetics Program, Australia Changes to Chromosomes: Translocations - New South Wales Genetics Program, Australia An Introduction to Genetics and Genetic Testing - Kidshealth ... Genetics and Neuromuscular Diseases - Muscular Dystrophy Association (also in Spanish Genetics Overview - Merck Manual Home Edition Genes and Disease - NCBI ... Genes and Populations - National Institute of General Medical Sciences (also in Spanish Heritable Disorders of Connective Tissue - NIAMS Impact of Medical Genetics - Mountain States Genetics Network Simply Stated: Genetic Myths - Muscular Dystrophy Association ... What are Genetic Disorders? - University of Utah

57. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Charts for Children With down syndrome G Richards. Some genetic Disorders Linked to Chromosome 18 links to Trisomy 18 syndrome (Edward syndrome) Adam, via http://www.mic.ki.se/Diseases/C16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [P Murphy] GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

58. MSRGSNet/Genetic Drift/Management Of Common Genetic Disorders Table of Contents Management of Common genetic Disorders Introduction Achondropasia down syndrome / Trisomy 21 Fragile X syndrome Marfan syndrome http://www.mostgene.org/gd/gdvol16c.htm

Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders Vol. 16: Summer, 1998 Down Syndrome / Trisomy 21 Introduction Trisomy 21 is the most common autosomal chromosome abnormality with an incidence of 1/800 live births. It occurs in all ethnic groups. Ninety-five percent are due to meiotic non-disjunction. Most of the time the extra chromosome is of maternal origin and the risk increases with increasing maternal age. A translocation is seen in 3-4% of cases, about half of which are de novo and half familial. Mosaicism is seen in 1-2% of children and the clinical picture correlates somewhat with the percentage of normal cells. The recurrence risk depends upon the etiology. In cases with non-disjunction and de novo translocations, the risk is about 1% plus the maternal age risk. Familial 21/21 translocations have a 100% recurrence risk. Other translocations have a lower recurrence risk with a 2-5% risk if the carrier is the father and a 10-15% risk if the mother is the carrier. Clinical Features Individuals with Down syndrome have characteristic facies and typical minor anomalies. Most striking in the newborn are the upslanting palpebral fissures, protruding tongue, abnormal palmar creases, and hypotonia. Once the diagnosis is suspected, it should be confirmed by a chromosomal analysis on cultured lymphocytes.

59. MoSt GeNe/Genetic Drift/Management Of Common Genetic Disorders Table of Contents Management of Common genetic Disorders Introduction Achondropasia down syndrome / Trisomy 21 Fragile X syndrome Marfan syndrome http://www.mostgene.org/gd/gdvol16e.htm

Previous Section This Issue- Table of Contents Next Section Management of Common Genetic Disorders Vol. 16: Summer, 1998 Marfan Syndrome Introduction Marfan syndrome is an autosomal dominant, highly penetrant, disorder of connective tissue with extremely variable clinical expression. The frequency is 1 to 10 per 100,000 live births. About 15% of individuals with Marfan syndrome have new mutations; the rest are familial. It is caused by a defect in the fibrillin-1 gene (FBN1) on chromosome 15. Many different mutations of FBN1 have been identified, which may contribute to the variability seen in the disorder. Currently, no single gene probe or group of probes can detect most FBN1 mutations. Sequencing the entire gene for mutations is tedious, and often detects mutations that may represent normal variation, resulting in both false positives and false negatives. Immunohistological evaluation of skin for abnormal fibrillin has been reported but is not widely available. For now, diagnosis of Marfan syndrome remains a clinical one. Clinical Features Marfan syndrome typically affects three major body systems: cardiovascular, skeletal, and ocular. Lungs and/or skin may also be involved.

60. Genetic Disorders Forum - Down Syndrome Information genetic Disorders Forum down syndrome Information, http://ehealthforum.com/health/subject80_210336_what.html

medical questions health forums become a member log in ... homepage Welcome to our newest member: Board Welcome! Health Forum is an online community for health questions. Although anyone can view forum messages, only registered members are allowed to post messages. If this is your first time, please take a moment to register so you can start interacting with others. There is no fee. login: password: Down Syndrome : Information Harvard Medical School's Consumer Health Information Down Syndrome: • Diagnosis • Duration • Additional Info • Prevention ... Tay-Sachs Disease (*) This Content Is Reviewed by the Faculty of the Harvard Medical School; Provided by InteliHealth Genetic Disorders Forum Jump to: Select a forum Mental Health Bipolar Disorder Depression Mental Conditions Schizophrenia New Member Introductions Pregnancy Teen Pregnancy Getting Pregnant Pregnancy Calendar Early Pregnancy Signs and Symptoms First Trimester of Pregnancy Second Trimester of Pregnancy Third Trimester of Pregnancy Labor and Delivery Pregnancy after Forty Depression During Pregnancy Multiple Pregnancy Single and Pregnant Baby Names Caring for Your Newborn Postpartum Depression Daddy Tips Grandparenting Infant Safety Tips Baby Milestones Baby Showers Pregnancy Fitness, Health and Nutrition

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