61. Fragile X Syndrome Definition - Medical Dictionary Definitions Of Popular Medica Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=3517

62. Families And Fragile X Syndrome They are individuals with fragile x syndrome and their families. What keeps the FMR1 gene from producing FMRP in fragile x syndrome? Human cells 101 http://purl.access.gpo.gov/GPO/LPS37822

Home Search Sitemap Contact ... Publications Families and Fragile X Syndrome Dear families— Welcome to the National Institute of Child Health and Human Development (NICHD) family album about Fragile X syndrome. As a health research agency, the NICHD family includes not only scientists, researchers, and health care providers, but also children, adults, and families who benefit from health research advances. Finding out that your child, a member of your family, or a friend has a “syndrome” can raise some tough questions. What does having that syndrome mean for the individual? What special needs will this individual have? How will those needs affect my family? Will my child, family member, or friend be able to take part in everyday activities and important events? Through its research, the NICHD strives to find answers to these questions. This booklet is designed to give you and your family some general information about Fragile X syndrome, its causes, its features, and its treatments. This publication also describes some of the research directions currently underway to learn more about Fragile X. The information presented here will give you and your family a foundation of knowledge that will help in understanding options, making decisions, and finding help.

63. Fragile X Syndrome: Keep Kids Healthy Conditions fragile x syndrome, a common cause of mental retardation in males, and its symptoms and treatments. http://www.keepkidshealthy.com/welcome/conditions/fragile_x.html

Bookstore Site Map Contact Us Help ... What's New? Search this site: Advanced Search Main Menu Useful Tools Index of Topics Pediatric Problems Parenting Tips ... Web Links Online Resources What's New Reviews Growth Charts Online Forums ... Pediatric News Newsletters: Subscribe to get free news, tips and updates. Recommend Us tell a friend about us or email this page to a friend Mental Retardation Related Links Mental Retardation Autism ADHD Speech Delays ... Diseases and Conditions Fragile X Syndrome by Barb Durso, MD What is Fragile X Syndrome? Fragile X Syndrome is the most common inherited cause of mental retardation . Although many of us have heard of Trisomy 21 or Down Syndrome as a cause of mental retardation, few of us are familiar with Fragile X Syndrome. The exact prevalence of Fragile X Syndrome is not certain, but is believed to occur in about 1 out of every 2000 boys and 1 out of 4000 girls. Some studies indicate that up to 6% of mentally retarded males may be found to have Fragile X Syndrome. Because Fragile X Syndrome is inherited, it is important to understand a little bit about the genetics behind it. All women carry two X chromosomes, and all men carry one X and one Y chromosome. The X and Y chromosomes are the so-called sex chromosomes. Located on the X chromosome is a gene called

64. Special Child: Disorder Zone Archives - Fragile X Syndrome fragile x syndrome Poster Child TJ Therrell. fragile x syndrome Poster Child For more information on fragile x syndrome, visit these helpful sites http://www.specialchild.com/archives/dz-008.html

Disorder Zone Archives Fragile X Syndrome TJ Therrell Eric Therrell Introduction Fragile X is a genetic disorder that is caused by a break or weakness on the long arm of the X chromosome (females have two X chromosomes and males have one X and one Y). The gene where the break or weakness has occurred has been named FMR1 (Fragile X Mental Retardation-1). Because of this defect, the gene cannot manufacture the protein that it normally makes, which causes the features and characteristics of the syndrome. Fragile X is estimated to occur in 1 in 1,200 males and 1 in 2,500 females. It occurs in all racial, ethnic, and socioeconomic groups. It is said to be one of the most common genetic diseases and is the most common inherited cause of learning disabilities and mental retardation known to exist. Features and Characteristics There are several physical and behavioral characteristics that are associated with fragile X, however, not every individual has all the characteristics. The following is a list of the most common traits: Long narrow face Prominent ears, jaw, and forehead

65. Fragile X Syndrome fragile x syndrome occurs in at least 1 in 1000 males. fragile x syndrome predominantly affects males. Approximately 4 times as many males as females have http://www.dpo.uab.edu/~birmie/frag.htm

FRAGILE X SYNDROME AKA: Martin-Bell Syndrome Definition Epidemiology Etiology Clinical Manifestations ... Reference Page Definition Fragile X is an X-linked mutation disorder where he genetic mutation involves unstable trinucleotide repeats (CGG) associated with a fragile site near the tip of the long arm of the X chromosome. It is the most common inherited cause of mental retardation. It is second to Down syndrome as genetic cause of MR. Epidemiology: Fragile X syndrome occurs in at least 1 in 1000 males. Fragile X syndrome predominantly affects males. Approximately 4 times as many males as females have Fragile X syndrome. However, it is estimated that 90% of those with Fragile X syndrome are undiagnosed. Etiology: Fragile X belongs to a group of trinucleotide repeat disorders. Fragile X syndrome contains a sequence of the trinucleotide CGG. Normal individuals have approximately 10 to 50 repeats of this sequence while affected individuals have from 200 to 2000 repeats (carriers have between 54 to 200). In Fragile X, like typical X-linked inheritance patterns, there can be no father-to-son inheritance of the Fragile X gene. This

66. Dr. Koop - Fragile X Syndrome fragile x syndrome is a genetic condition involving changes in the long arm of the X . It is characterized by mental retardation. http://www.drkoop.com/ency/93/001668.html

Home Health Reference Fragile X syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library Inside DrKoop News Archive Animations Health Videos Health Tools ... Newsletters Fragile X syndrome Injury Disease Nutrition Poison ... Prevention Fragile X syndrome Definition: Fragile X syndrome is a genetic condition involving changes in the long arm of the X chromosome . It is characterized by mental retardation. Alternative Names: Martin-Bell syndrome; Marker X syndrome Causes, incidence, and risk factors: Fragile X syndrome is the most common form of inherited mental retardation in males and a significant cause in females. The inheritance is different from common dominant or recessive inheritance patterns. A fragile area on the X chromosome tends to repeat bits of the genetic code. The more repeats, the more likely there is to be a problem. Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is more likely to affect them more severely. New Features Fewer Migraines Skin Cancer Atkins/Low Carb Diets Learn More About Migraines * All Health Centers * Acne Addictions AIDS/HIV Alcohol Abuse Allergies Alternative Medicine Alzheimer's Arthritis Asthma Attention Deficit Disorder (ADHD) Backache Bipolar Affective Disorder Birth Control Blood Blood Pressure Bone/Joint/Tendon Bowel Brain Breast cancer Cancer Cerebral Palsy Cholesterol Cramps Crohn's Disease Cysts Dental/Oral Depression Diabetes Diet, Fitness, Looks

67. Hospital Practice: Fragile X Syndrome Eventually, fragile x syndrome would be recognized as among the most frequent By 1991, fragile x syndrome had been mapped to a small interval marked by http://www.hosppract.com/genetics/9704gen.htm

Molecular Genetics in Clinical Practice Trinucleotide Repetition and Fragile X Syndrome STEPHEN T. WARREN Emory University By 2005, or sooner, the three billion code letters of a representative human genome will be known, along with the locations of all of its genes. Even today, however, the work is greatly accelerating identification of disease-related genes. One outcome will be tests for genetic components of risk in the majority of common illnesses. In the longer run, genetic discoveries will surely lead to new treatments. Dr. Warren is an investigator at the Howard Hughes Medical Institute and William P. Timmie Professor of Human Genetics, Emory University School of Medicine, Atlanta. Even more oddly, the risk of mental impairment varies with position in a pedigree. Men unaffected by having a fragile X chromosome are called transmitting males because they pass the defective chromosome to all of their daughters, who have almost no risk of mental impairment. In marked contrast, the sons of carrier women have a 76% penetrance, and the daughters a 32% penetrance. In the children of impaired women, the figures are 100% for boys and 56% for girls. In brief, disease expression depends on inheritance from the mother, and as the disease trait descends through a kindred, the proportion of affected boys becomes greater in each generation (Figure 2). No standard type of mutation could have accounted for any such changes. Indeed, the peculiarities resisted all explanation until the mutation was understood. By 1991, fragile X syndrome had been mapped to a small interval marked by induced translocations at the fragile X site in somatic cell hybrids. Intensive investigation of the region disclosed two forms of abnormality in fragile X chromosomes: a span of DNA hypermethylation and also a length variation, soon traced to a great number of repetitions of the trinucleotide CGG. The area affected was a gene now designated

68. Fragile X Syndrome CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, http://www.chclibrary.org/micromed/00048720.html

Main Search Index Definition Description Causes ... Resources Fragile X syndrome Definition Fragile X syndrome is caused by a mutated gene on the X chromosome. Affected individuals have developmental delays, variable levels of mental retardation , and behavioral and emotional problems. They may also have characteristic physical traits. Males are affected more severely than females. Description Fragile X syndrome is the most common form of inherited mental retardation. Estimates of the incidence of this syndrome vary, but it is thought to affect about one in 2,000 girls and one in 1,250 boys. The syndrome is caused by a mutation in the FMR-1 gene, located on the X chromosome. The role of the gene is unclear, but it is probably important in early development. The mutation involves a short sequence of DNA in the gene. This sequence is designated CGG. Normally, there are fewer than 50 adjacent copies of the CGG sequence. If the CGG sequence repeats more than 200 times, the FMR-1 gene is disabled. Fragile X syndrome is caused by a full mutation in the FMR-1 gene on the X chromosome. Because boys have just one copy of the X chromosome, they are more likely to develop symptoms than girls are. Fragile X boys appear normal at birth but development is delayed and they may have behavioral problems as they get older. Common behavioral problems include hyperactivity and attention problems known as attention deficit disorder. Approximately 90% of fragile X boys are mentally retarded, although the severity of the retardation varies. Characteristic physical traits appear later in childhood. These traits include enlarged testes, prominent ears, and a long, narrow face.

69. Fragile X Syndrome fragile x syndrome research index site with links for disability users, 1000 s of search engines and with live java games, chat s, kids internet, irc, http://www.ability.org.uk/fragile.html

Our Aims Services Stats ... Z Fragile X Syndrome FRAXA Research Foundation - a single gene disorder and the inherited cause of mental retardation. a national nonprofit, parent-run foundation, funds medical research aimed at treatment. Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments

70. © The Centre For Genetics Education The most important feature of fragile x syndrome is intellectual disability, Males with the fragile x syndrome are usually larger at birth than their http://www.genetics.com.au/factsheet/32.htm

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71. THE MERCK MANUAL--SECOND HOME EDITION, Fragile X Syndrome In Ch. 266, Chromosoma fragile x syndrome is a genetic abnormality in an X chromosome that leads The symptoms of fragile x syndrome are caused by abnormalities in DNA on the X http://www.merck.com/mmhe/sec23/ch266/ch266c.html

var externalLinkWarning = "The link you have selected will take you to a site outside Merck and The Merck Manuals.*n*nThe Merck Manuals do not review or control the content of any non-Merck site. The Merck Manuals do not endorse and are not responsible for the accuracy, content, practices, or standards of any non-Merck sources."; Search The Second Home Edition , Online Version Search Index A B C D ... Z Sections Accidents and Injuries Blood Disorders Bone, Joint, and Muscle Disorders Brain, Spinal Cord, and Nerve Disorders ... Women's Health Issues Resources Anatomical Drawings Multimedia Pronunciations Weights and Measures ... , Online Version Section Children's Health Issues Chapter Chromosomal and Genetic Abnormalities Topics Introduction Down Syndrome Fragile X Syndrome Klinefelter Syndrome Long QT Syndrome Noonan Syndrome Triple X Syndrome ... XYY Syndrome Fragile X Syndrome Buy The Book Print This Topic Email This Topic Pronunciations autism mitral mitral valve mitral valve prolapse Fragile X syndrome is a genetic abnormality in an X chromosome that leads to delayed development and other symptoms. The symptoms of fragile X syndrome are caused by abnormalities in DNA on the X chromosome. Usually, affected boys inherit the condition from their mothers.

72. Fragile X Syndrome - Areas Of Research - MRDDRC fragile x syndrome. Symptoms and genetic basis. fragile x syndrome is among the fragile x syndrome resources Organizations. » The National Fragile X http://mrrc.pedi.bcm.tmc.edu/research areas/fragilex.html

Fragile X syndrome Symptoms and genetic basis: Fragile X syndrome is among the most common of the human disorders that are caused by disruption of a single gene, and is the leading cause of inherited mental retardation. The estimated frequency of this disorder worldwide is 1/2000-1/4000. In addition to the mental retardation and family history (especially a male relative) seen in this disorder, Fragile X syndrome is also associated with large testicles, a large size, a tendency to avoid eye contact, hyperactive behavior, a large forehead and/or ears, and a prominent jaw. The most common mutation found in Fragile X syndrome is expansion and methylation of an unstable region of DNA (deoxyribonucleic acid) that contains multiple copies of a unit of three particular nucleotides (cytosine-guanine-guanine, or CGG). This expansion and methylation disrupts the expression of a gene called FMR1, and the largest forms of the expansion result in that portion of the X chromosome being particularly fragile when being examined cytogenetically (hence the name "Fragile X syndrome"). Two similar unstable CGG repeats have been found nearby on the X chromosome. Of these three Fragile X sites, two appear to be associated with mental retardation (FRAXA affects the FMR1 gene in Fragile X syndrome, while FRAXE affects the FMR2 gene in FRAXE disease). The third site, FRAXF, appears to be benign.

73. Fragile X Syndrome Penn State Children s Hospital provides world class care and services to patients. http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm

74. BBC - Health - Conditions - Fragile X Syndrome The causes and symptoms of fragile x syndrome. fragile x syndrome (or MartinBell syndrome) is the most common inherited cause of learning disability. http://www.bbc.co.uk/health/conditions/fragilex1.shtml

@import url('/includes/tbenh.css') ; Home TV Radio Talk ... A-Z Index FRIDAY 9th September 2005 Text only BBC Homepage Lifestyle Health ... Help Like this page? Send it to a friend! Fragile X syndrome Dr Trisha Macnair Fragile X syndrome (or Martin-Bell syndrome) is the most common inherited cause of learning disability. In this article Causes Symptoms Who's affected? Diagnosis and treatment Causes In fragile X, one of the genes on the X chromosome is faulty. A constriction can be detected near the tip of the X chromosome, which makes it fragile and susceptible to breakage. Boys are usually more severely affected by the syndrome, as they have only one X chromosome. Girls have a second X chromosome, which can be used instead of the faulty one, and may have only mild disabilities. They may also be silent carriers of the condition. Symptoms The main problem in fragile X is mental impairment. This may range from a normal IQ to severe learning disabilities. Other symptoms include hyperactivity, attention deficit disorder, emotional and behavioural problems, anxiety and mood swings. There may also be characteristic facial features, such as a long face and large ears. Other physical features include flat feet and hyperextensible joints.

75. Fragile X Syndrome fragile x syndrome Hemochromatosis Hunter Syndrome MCAD Methylation Studies Myotonic Dystrophy Noonan Syndrome Rett Syndrome SaethreChotzen http://www.ggc.org/Diagnostics/Molecular/fragile_x_syndrome.htm

Fragile X Syndrome Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Fragile X Syndrome Fragile X Syndrome is the most common form of inherited mental retardation. More than 99% of cases are due to the expansion of a polymorphic (CGG) repeat within the FMR1 gene. Approximately 1/1250 males and 1/2500 females are affected by the condition. Some population studies have shown the carrier frequency to be as high as 1/250 individuals. The American College of Medical Genetics policy statement on Fragile X testing recommends consideration of testing under the following circumstances: Individuals of either sex with mental retardation, developmental delay, or autism Individuals with a family history of Fragile X syndrome or unexplained MR Prenatal testing of fetuses of known carrier mothers Patients with negative cytogenetic fragile X testing results who have clinical symptoms of Fragile X syndrome Fragile X testing at the Greenwood Genetic Center involves two independent molecular approaches. Southern blotting and subsequent analysis allows the repeat segment size and methylation status of a sample to be determined. Polymerase chain reaction analysis is utilized to more accurately determine (CGG) repeat numbers in high normal and premutation ranges. Prenatal testing is available via material from CVS or amniocentesis, although CVS analysis may require a follow-up amniocentesis to fully determine the fetal methylation status.

76. Kennedy Krieger Institute Fragile X Syndrome fragile x syndrome is a hereditary condition which causes a wide range of In addition to mental impairment, fragile x syndrome is associated with a http://www.kennedykrieger.org/kki_diag.jsp?pid=1086

77. Fragile X Syndrome DESCRIPTION The fragile X mutation that produces the fragile x syndrome is the most common known heritable cause of mental retardation. http://www.5mcc.com/Assets/SUMMARY/TP0352.html

Fragile X syndrome DESCRIPTION: The fragile X mutation that produces the fragile X syndrome is the most common known heritable cause of mental retardation. As a result, it is the most common form of familial mental retardation. This condition received its name from the cytogenetic "fragile site" which is seen on the long arm of the X chromosome (Xq27.3). It is associated with abnormal increase in CGG repeats in the untranslated region of the FMR-1 gene in both carriers and affected individuals. Affected individuals also exhibit hypermethylation at the fragile site. System(s) affected: Nervous, Reproductive, Musculoskeletal Genetics: The pattern of inheritance is X-linked, however, this condition is seen in both sexes. Males usually more severely affected than females. The specific factors controlling the expression of genes at the fragile X site are not fully understood 80% of males with the fragile X chromosome will be affected with moderate to severe mental retardation, with 20% unaffected and defined as transmitting males Only one third of the female carriers will have mental retardation, and their degree of handicap usually is less severe. Females may demonstrate emotional problems.

78. Screening For Fragile X Syndrome: A Literature Review And Modelling Study fragile x syndrome (FXS) is an inherited disorder that causes learning difficulty. The disorder affects an estimated one in 4000 males and one in 8000 http://www.ncchta.org/execsumm/summ716.htm

HTA Home Page Details page for this publication Publications listing Publications search Health Technology Assessment 2003; Vol 7: number 16 Executive Summary View/Download full monograph in Adobe Acrobat format (574 kbytes) View/Download 4-page summary in Adobe Acrobat format (suitable for printing) Screening for fragile X syndrome: a literature review and modelling study FJ Song P Barton V Sleightholme GL Yao A Fry-Smith Department of Public Health and Epidemiology, University of Birmingham, UK Health Service Management Centre, Birmingham, UK Clinical Genetics Unit, Birmingham Women’s Hospital, UK *Corresponding author Background Fragile X syndrome (FXS) is an inherited disorder that causes learning difficulty. The disorder affects an estimated one in 4000 males and one in 8000 females. Affected males are generally unable to live independently, while affected females have learning difficulty but may live independently. There is no cure for FXS. Management of affected individuals is through specific educational and psychosocial interventions and treatment of any clinical symptoms. There are about 10,000 FXS patients in England and Wales. Since the annual cost to the NHS for managing a moderately affected adult was approximately £20,000 (1995 data), the total annual cost of managing FXS patients can be estimated to be £200 million in England and Wales.

79. HTA Published Project Details More results from www.ncchta.org fragile x syndromeI have an eightyear old son, Ross, who has fragile x syndrome. fragile x syndrome is a genetically inherited condition that is passed through http://www.ncchta.org/ProjectData/3_project_record_published.asp?PjtId=1257

80. Fragile X Syndrome fragile x syndrome is an X chromosome defect that causes mental retardation For unexplained reasons, fragile x syndrome does not behave in the typical http://ww3.komotv.com/Global/story.asp?S=2854654

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