81. Cell Biology Lab- Fragile X Syndrome The disease fragile x syndrome is the most common form of inherited mental retardationin humans. fragile x syndrome and fragile XE mental retardation. http://anatomy.med.unsw.edu.au/cbl/research/neurons/fx1.htm

Cell Biology Lab Email m.hill@unsw.edu.au Research Background- Fragile X Back to CBL Homepage Research Background Introduction PubMed Page 2 Links ... Review Articles Back to Actin Page Apoptosis Cytoskeleton Page Fragile X Glaucoma mRNA Localization mRNA Loc List Neurons ... Research Background Introduction The disease Fragile X syndrome is the most common form of inherited mental retardation in humans. The Gene and mutation causing this disease has recently (1993) been identified. The disease results from a CGG expansion in the FMR1 gene located on the X chromosome (Xq27.3, see Figure 1 ) . The disease is inherited by non-Mendelian transmission, contains a genetically unstable CGG region in the 5' non-translated region ( see Figure 2 ). The severity of the disease is correlated with the length of the CGG tract (

82. Fragile X Syndrome Is Focus Of New Study Center At UNC Jan. 10, 2003 No. 14. fragile x syndrome is focus of new study center at UNC. FragileX Syndrome is the most common inherited cause of mental retardation. http://www.unc.edu/news/newsserv/research/jan03/fragilex011003.html

NEWS SERVICES 210 Pittsboro Street, Campus Box 6210 Chapel Hill, NC 27599-6210 (919) 962-2091 FAX: (919) 962-2279 www.unc.edu/news/newsserv NEWS For immediate use Jan. 10, 2003 No. 14 Fragile X Syndrome is focus of new study center at UNC CHAPEL HILL The department of psychiatry and the Neurodevelopmental Disorders Research Center at the University of North Carolina at Chapel Hill have received a $3.5-million grant to study brain development in very young children with Fragile X Syndrome. The five-year grant is from the National Institute of Mental Health, a component of the National Institutes of Health. Fragile X Syndrome is the most common inherited cause of mental retardation. The study involves researchers from both UNC and Duke University, through the Duke-UNC Brain Imaging and Analysis Center, and represents a collaboration with researchers at Stanford University, who have been awarded an identical grant to conduct this joint study. Dr. Joseph Piven, professor of psychiatry and pediatrics and director of the Neurodevelopmental Disorders Research Center in UNC’s School of Medicine, is the principal investigator. Other researchers include Drs. Guido Gerig, Heather Cody-Hazlett, Sarang Joshi, Stephan Reznick, Deborah Hatton, Michelle Poe and Margaret Burchinal from UNC, and Drs. James MacFall, James Provenzale and Allison Ross from Duke University. MacFall is principal investigator of the Duke site.

83. Dynagene Information For Patients - Fragile X Syndrome fragile x syndrome. fragile x syndrome is the most common form of inheritedmental retardation. It occurs in 1 out of every 1,250 http://www.dynagene.com/education/fragilex.html

Client Services Testing Services Genetic Counseling For Patients ... News Room Houston 7400 Fannin Suite 1200 Houston, TX 77054 Tel: 713 798 9500 Fax: 713 798 9595 Toll Free: 800 543 1346 Seattle 819 Boylston Ave. 2nd Floor Seattle, WA 98104 Tel: 206 386 6166 Fax: 206 386 2631 Toll Free: 800 458 6836 Patient Education print Fragile X Syndrome Physical and medical characteristics Pattern of inheritance Testing for fragile X syndrome Who should be tested for fragile X syndrome? ... Where can I learn more about fragile X? Fragile X syndrome is the most common form of inherited mental retardation. It occurs in 1 out of every 1,250 males, and 1 out of every 2,000 females. This condition is due to an abnormal gene located on the X chromosome. Physical and medical characteristics An individual with fragile X syndrome may be identified by a number of physical features which may help in the initial diagnosis. These include a large head size with a long, narrow face, a prominent forehead, large ears, a wide nose, and a square-like chin. A characteristic feature in adult men is macro-orchidism (large testicles).

84. Atlanta Teenager's Book On Fragile X Syndrome Is Personal Account Of How Disabil edu. February 19, 2003. Atlanta Teenager's Book on fragile x syndromeis Personal Account of How Disabilities Affect Families. ATLANTA http://www.emory.edu/WHSC/HSNEWS/releases/feb03/heyman.html

Media contacts: Holly Korschun, 404/727-3990, hkorsch@emory.edu Janet Christenbury, 404/727-8599, jmchris@emory.edu February 19, 2003 Atlanta Teenager's Book on Fragile X Syndrome is Personal Account of How Disabilities Affect Families ATLANTACarly Heyman is a 16-year-old girl who knows first-hand the tremendous challenges of a major disability ­­ not her own, but that of her 22-year-old brother, Scott. When Scott was four years old, he was diagnosed with fragile X syndrome, which is the leading cause of inherited mental retardation. Scott was diagnosed by geneticist Stephanie Sherman, PhD, at Emory University School of Medicine. Stephen T. Warren, PhD, chair of the Department of Human Genetics, directs one of the oldest and largest research programs on fragile X syndrome in the world, housed at Emory. Carly has written a new book, entitled My eXtra Special Brother

85. Adolescents With Down Syndrome Or Fragile X Syndrome And Their Families ADOLESCENTS WITH DOWN SYNDROME or fragile x syndrome and THEIR FAMILIES.An invitation to participate in a research project that http://www.waisman.wisc.edu/adolescents.html

ADOLESCENTS WITH DOWN SYNDROME or FRAGILE X SYNDROME and THEIR FAMILIES An invitation to participate in a research project that will help us to understand the communication difficulties that adolescents with Down syndrome and adolescents with fragile X syndrome face and the impact of these difficulties on their families Communication Skills Factors Involved in Successful Communication Purpose of Our Project Who's Eligible? ... Yes, I am interested in learning more about this study. Project Director: Leonard Abbeduto, Ph.D. Professor of Educational Psychology Waisman Center University of Wisconsin-Madison 1500 Highland Avenue Madison, WI 53705 Funded by: The National Institutes of Health COMMUNICATION SKILLS ARE CRITICAL FOR SUCCESS IN MANY SITUATIONS Effective communication is essential for success in school, employment and social situations. Success or difficulty with communication also impacts significantly on families. Waisman Center SUCCESSFUL COMMUNICATION DEPENDS ON SEVERAL FACTORS: Determining the information our listeners have and what information we should provide.

86. © The Centre For Genetics Education Fact Sheet 23, Last Updated May 2002. fragile x syndrome. Produced bythe Centre for Genetics Education. WHAT IS THE fragile x syndrome? http://www.genetics.com.au/Genetics2003/FactSheets/23.asp

GENETIC FACT SHEETS Fact Sheet 23 Last Updated: May 2002 FRAGILE X SYNDROME Produced by the Centre for Genetics Education. Fax: (02) 9906 7529 Email: genetics@med.usyd.edu.au Internet: www.genetics.com.au Adobe Acrobat PDF Printable Version (17 KB) WHAT IS THE FRAGILE X SYNDROME? A syndrome is a group of unusual physical, behavioural and/or intellectual features, which occur in a pattern in a person and together describe the characteristics of a particular disorder. The most important feature of fragile X syndrome is intellectual disability, together with generally normal physical features. The degree of disability is variable. Males with the fragile X syndrome are usually larger at birth than their unaffected brothers and sisters, but their final height is normal. They show some or all of the following features: hyperactivity, hand flapping, gaze avoidance related to shyness, speech problems and epilepsy. Other features may occur occasionally, such as extremely flexible joints, soft skin, and flat feet. They usually have a high wide forehead, a longish face and large ears. After puberty, the testes are enlarged and the facial features become more apparent.

87. Medic-Planet Fragile X Syndrome fragile x syndrome See also Genetic diseases, Hemophilias, Huntington'sdisease (chorea), Back to the Index page fragile x syndrome http://www.medic-planet.com/MP_article/internal_reference/Fragile_X_syndrome

88. Exec Summary Vol 1: No. 4. Screening For Fragile X Syndrome Screening for fragile x syndrome, Jenni Murray 1. In 1991, the gene responsible forfragile x syndrome, a common cause of learning disability, was discovered. http://www.hta.nhsweb.nhs.uk/execsumm/SUMM104.HTM

HTA Home Page Publications Page Health Technology Assessment 1997; Vol. 1: No. 4 (Executive summary) Executive summary View/Download full monograph in Adobe Acrobat format (295 kbytes) Screening for fragile X syndrome Jenni Murray Howard Cuckle Graham Taylor Jenny Hewison Background and aim of review In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood. This report aims to provide the information needed to decide whether to use DNA testing to screen for the disorder. How the research was conducted Research findings Natural history Although fragile X syndrome is not curable there are a number of medical, educational, psychological and social interventions that can improve the symptoms. About 6% of those with learning disabilities tested in institutions have fragile X syndrome. Population prevalence figures are 1 in 4000 in males and 1 in 8000 in females. Genetics Screening strategies The principal aim of screening for fragile X syndrome is to reduce the birth prevalence of the disorder, by prenatal diagnosis and selective termination of pregnancy, or by reducing the number of pregnancies in women who have the FM or PM alleles.

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

Bookstore Site Map Contact Us Help ... Free Web Pages! Search this site: Advanced Search Free Newsletters Main Menu Useful Tools Index of Topics Pediatric Problems New! Parenting Tips Symptom Guide Nutrition Immunizations ... Web Links Online Resources What's New Reviews New! Growth Charts Online Forums Vaccine Schedule Baby Names Guide ... 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

90. Fragile X Syndrome fragile x syndrome. Definition. fragile x syndrome is the most commonform of inherited mental retardation. Individuals http://www.healthatoz.com/healthatoz/Atoz/ency/fragile_x_syndrome.html

Encyclopedia Index F Home Encyclopedia Encyclopedia Index F Fragile X syndrome Definition Fragile X syndrome is the most common form of inherited mental retardation . Individuals with this condition have developmental delay, variable levels of mental retardation, and behavioral and emotional difficulties. They may also have characteristic physical traits. Generally, males are affected with moderate mental retardation and females with mild mental retardation. Description Fragile X syndrome is also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome. It is the most common form of inherited mental retardation. Fragile X 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. Fragile X syndrome affects males and females of all ethnic groups. It is estimated that there are about one in 4,000 to one in 6,250 males affected with fragile X syndrome. There are approximately half as many females with fragile X syndrome as there are males. The carrier frequency in unaffected females is one in 100 to one in 600, with one study finding a carrier frequency of one in 250. Causes and symptoms For reasons not fully understood, the CGG sequence in the FMR-1 gene can expand to contain between 54 and 230 repeats. This stage of expansion is called a premutation. People who carry a premutation do not usually have symptoms of fragile X syndrome; although there have been reports of individuals with a premutation and subtle intellectual or behavioral symptoms. Individuals who carry a fragile X premutation are at risk to have children or grandchildren with the condition. Female premutation carriers may also be at increased risk for earlier onset of

91. Nature Publishing Group 11 pp 1204 1205 A new regulatory pathway for fragile x syndrome? Research on humanfragile x syndrome continues to elicit exciting but humbling discoveries. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v8/n11/full/nm1102-1

92. Speaking The Language Of Fragile X Syndrome Speaking the Language of fragile x syndrome. Words scarcely convey whatClare Dunsford feels for her son, but she wants to give it a try. http://www.bc.edu/bc_org/rvp/pubaf/chronicle/v11/d13/dunsford.html

Speaking the Language of Fragile X Syndrome Words scarcely convey what Clare Dunsford feels for her son, but she wants to give it a try By Sean Smith Chronicle Editor Month after month, year after frustrating year, Clare Dunsford waited for her son J.P. to talk, to say something, anything that resembled speech. College of Arts and Sciences Associate Dean Clare Dunsford with her son, J.P., who has Fragile X Syndrome, a hereditary condition which causes a wide range of mental impairments. (Photos by Lee Pellegrini) Dunsford, an associate dean in the College of Arts and Sciences and a self-proclaimed "chatterbox," did not wait in silence. She spoke to J.P. constantly - "laved him with words" - and, as he grew from infant to toddler to school-age, she often found herself speaking for him. But J.P.'s words came in the barest of trickles. There were some highlights: "mama" on his second Christmas, for example, and "cookie" a few months later. By the time he was 4, J.P. had only about a dozen words or word-like sounds in his repertoire, and the earlier reassurances of relatives and friends, and of pediatric neurologists who had examined him, rang hollow to Dunsford. "If I heard one more time about Albert Einstein being a late bloomer...," recalled Dunsford in a recent interview, a wan smile punctuating her remark.

93. Fragile X Syndrome By S Kashif Haque fragile x syndrome by S Kashif Haque Mental retardation is a very common clinicalproblem with a prevalence in the human population of about 12%. Genetic http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/KS Haque1

Fragile X Syndrome by S Kashif Haque Mental retardation is a very common clinical problem with a prevalence in the human population of about 1-2%. Genetic forms of mental retardation account for about half of the severely retarded patients. The most frequent of all genetic forms of mental retardation is fragile X (FRAXA) or Martin-Bell syndrome. This particular form of mental retardation has been estimated to affect approximately 1 in 1250 males and 1 in 2000 females. Fragile X can be detected at three levels: whole body symptoms, abnormal chromosomes, and DNA level mutation. Body symptoms have a diverse range of expression and can include: mental impairment ranging from learning disabilities to mental retardation, attention deficit and hyperactivity, anxiety and unstable mood, autistic-like behaviors, long faces with coarse features, large lopsided ears, flat feet, large testicles, hyperextensible joints, and sometimes even mild heart abnormalities. Since the gene that causes fragile X is on the X chromosome, and females carry two X chromosomes while males carry only one, fragile X is therefore expressed more frequently and with more severity in males. Fragile X can be detected at the abnormal chromosomal level by the fact that,when fragile X chromosomes are cultured in a medium lacking the vitamin folic acid, a characteristic constriction can be seen near the end of chromosome Xq27.3 (Eichler et al. 1993). At the DNA level, fragile X can be detected due to excess methylation (addition of CH 3 groups) to a CpG island, which is a stretch of sequence preceding the structural gene called FMR-1 (See Fig. 1-2 below). This excess methylation was found to occur due to a large increase in the number of CGG repeats just upstream from the FMR-1 coding region (Fig. 1-2). In the normal population the number of CGG repeats varies between 6-50. CGG repeat numbers between 50 and 200 (premutations) have been observed in unaffected carrier males and females. In persons diagnosed with severe fragile X, such as Barry and Joseph, in the pedigree in Fig. 1-1, this sequence has been found to repeat between 200 to 1,000 times. Due to this large number of repeats, transcription suppression of the promoter region of FMRP occurs, which results in the absence of the encoded protein FMRP. This lack of FMRP protein is believed to be responsible for the fragile X symptoms (or phenotype) that are manifested.

94. Fragile X fragile x syndrome. This diagram displays fragile x syndrome. This occurs inabout 1 in 1500 males. Affected female carriers are typically normal. http://medgen.genetics.utah.edu/photographs/pages/fragile_x.htm

Fragile X Syndrome view 110KB version view 8KB version A boy with fragile X syndrome. Note the prominent and elongated ears and long face. Children from different ethnic groups have similar characteristics. This picture shows a Caucasian boy. view 1378 KB version view 5KB version This picture is of an Asian boy with fragile X syndrome. view 1864 KB version view 13 KB version This picture is of an Hispanic boy with fragile X syndrome. This diagram displays fragile X syndrome. This occurs in about 1 in 1500 males. Affected female carriers are typically normal. Most of the affected males have mental retardation, and their testes are larger than normal. Examinations Photographs Movies Links ... noJava Home

95. Fragile X Syndrome MAIN SEARCH INDEX fragile x syndrome. Definition. fragile x syndrome isthe most common form of inherited mental retardation. Individuals http://www.hendrickhealth.org/healthy/000562.htm

MAIN SEARCH INDEX Fragile X syndrome Definition Description Causes and symptoms Diagnosis ... Resources Definition Fragile X syndrome is the most common form of inherited mental retardation . Individuals with this condition have developmental delay, variable levels of mental retardation, and behavioral and emotional difficulties. They may also have characteristic physical traits. Generally, males are affected with moderate mental retardation and females with mild mental retardation. Description Fragile X syndrome is also known as Martin-Bell syndrome, Marker X syndrome, and FRAXA syndrome. It is the most common form of inherited mental retardation. Fragile X 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. Fragile X syndrome affects males and females of all ethnic groups. It is estimated that there are about one in 4,000 to one in 6,250 males affected with fragile X syndrome. There are approximately half as many females with fragile X syndrome as there are males. The carrier frequency in unaffected females is one in 100 to one in 600, with one study finding a carrier frequency of one in 250. Causes and symptoms For reasons not fully understood, the CGG sequence in the FMR-1 gene can expand to contain between 54 and 230 repeats. This stage of expansion is called a premutation. People who carry a premutation do not usually have symptoms of fragile X syndrome; although there have been reports of individuals with a premutation and subtle intellectual or behavioral symptoms. Individuals who carry a fragile X premutation are at risk to have children or grandchildren with the condition. Female premutation carriers may also be at increased risk for earlier onset of

96. Fragile X Syndrome. fragile x syndrome (MatinBell Syndrome) Disease Aetiology. In fragile Xsyndrome, a region of the chromosome has a series of repeats. When http://www.diseasedir.org.uk/genetic/genex03.htm

Fragile X Syndrome (Matin-Bell Syndrome) Disease type: Gene repeat Chromosomes: X Chromosome Aetiology In fragile X syndrome, a region of the chromosome has a series of repeats. When polymerase begins to replicate the chromosome, polymerase can slip on these repeats, and accidentally enlarges these repeats. In the case of fragile X syndrome, it is thought that when the number of repeats is greater than 200 the gene becomes methylated (a methyl group is added onto the DNA backbone). This methylation causes the gene to become inactive (the promoter becomes inactive, the gene is no longer transcribed). Polymerase is thought to slip when producing the Okazaki fragments during DNA replication. Polymerase can only work in one direction. DNA is said to be asymmetrical, one strand runs in one direction, the other strand runs in the other direction. Polymerase can replicate along one direction uninterrupted, but in the opposite direction polymerase can only move a certain distance before it bumps into itself (see diagram). When polymerase replicates over a large number of repeats, when working in the wrong direction polymerase slips and accidentally copies more of the repeats than there actually are. Later the new repeats become integrated into the chromosome, causing the gene to become inactive once the repeats pass a certain threshold (greater than 200).

97. Fragile X Syndrome - National Advocacy And Information Resources A quick guide to National Advocacy and Information Resources for FragileX Syndrome. Search for fragile x syndrome resources. National http://www.therapistfinder.net/national/fragilexsyndrome.html

National Organizations: Fragile X Syndrome FRAXA Research Foundation, Inc. P.O. Box 935 West Newbury, MA 01985,BR> voice: fax: e-mail: fraxa@seacost.com web: FRAXA Research Foundation FRAXA is a national, 501(c)(3) nonprofit organization run by parents and medical professionals. It is made up entirely of volunteers. In 1994, three parents of children with fragile X syndrome founded FRAXA because fragile X research is drastically underfunded. FRAXA's quarterly Newsletter is sent to all members ($25 or more annual donation). FRAXA also publishes a Medication Guide for Fragile X Syndrome, by Michael Tranfaglia, MD, and brochures. Site Map Contact Find the Help You Need E-Newsletter Subscribe Unsubscribe Smarter Consumers Interactive Glossary Mental Health Journal Recovery News Quick Listings Illinois Hospitals Hotlines Government Agencies National Organizations Professional Center Enrollment Form Member News Associations Search Engines DMOZ AOL MSN LookSmart ... Member/Investor Newsletter TherapistFinder.net is a service provided by Mir Internet Marketing, Inc.

98. The Autism Research Foundation Dedicated to Research in Autism, Pervasive Developmental Disorder (PDD), Asperger's syndrome, Rett's syndrome, fragile X and Other Developmental Brain Disorders. http://ladders.org/tarf/

text only version About Us News Our Research at TARF text only version About Us News Our Research at TARF ... How You Can Help

99. Mosaiques X Fragile, Maladie Genetique Hereditaire, Dite Rare, Retard Mental syndrome de l'X fragile, maladie g©n©tique h©r©ditaire rare avec retard mental, troubles du langage, du comportement, anomalies physiques. http://www.xfragile.org/

syndrome de l'x fragile, maladie génétique héréditaire rare avec retard mental, troubles du langage, du comportement, anomalies physiques,... syndrome de l'x fragile, maladie génétique, héréditaire, rare, retard mental, troubles du langage, du comportement, des apprentissages, difficultés scolaires, troubles de l'attention et de la mémoire, hyperactivité, syndrome de l'x fragile, maladie génétique héréditaire rare avec retard mental, troubles du langage, du comportement, anomalies physiques,... syndrome de l'x fragile, maladie génétique, héréditaire, rare, retard mental, troubles du langage, du comportement, des apprentissages, difficultés scolaires, troubles de l'attention et de la mémoire, hyperactivité,

100. National Association For Child Development - Helping Children And Parents With P The National Academy for Child Development, Inc. is an international organization of parents and professionals dedicated to helping children and adults reach their full potential. The over 15,000 clients served by NACD have come to us with labels including Learning Disabled, Dyslexic, Distractible, ADD, ADHD, Hyperactive, Down syndrome, Fetal Alcohol syndrome, Williams syndrome, Tourettes syndrome, Rett syndrome, fragile X, Developmentally Delayed, PDD, Autistic, Cerebral Palsy, Brain Injured, Comatose, Retarded, Minimal Brain Dysfunction, Normal, Accelerated and Gifted. http://www.nacd.org

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