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Fragile X Syndrome:     more books (85)

Speech & Language Development & Intervention in Down Syndrome & Fragile X Syndrome (Communication and Language Intervention Series) by Joanne E., Ph.D. Roberts, 2007-11-06 Supporting Children with Fragile X Syndrome by Hull Learning Services, 2004-09-30 Children with Fragile X Syndrome: A Parents' Guide The Broken Toy: A Story of a Fragile X Syndrome Child by Marilyn Morgan, 2005-04-28 X Stories: The Personal Side of fragile X syndrome Educating Children with Fragile X Syndrome: A Multi-Professional View Fragile X Syndrome: Diagnosis, Treatment, and Research (Johns Hopkins Series in Contemporary Medicine and Public Health) The Source for Fragile X Syndrome by Gail Harris-Schmidt, 2004-01 Fragile X Syndrome: A Guide for Teachers by Suzanne Saunders, 2001-03-16 The 2002 Official Patient's Sourcebook on Fragile X Syndrome Fragile X Syndrome by Randi Jenssen Hagerman, Pamela McKenzie McBogg, 1983-06 The Official Parent's Sourcebook on Fragile X Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30 New Research on Fragile X Syndrome The Fragile X Syndrome (Molecular Medicine)

lists with details

1. The National Fragile X Foundation - Fragile X Syndrome
   The National Fragile X Foundation s website contains over 3000 pages of content on the genetic mutation called Fragile X including fragile x syndrome (FXS),  
   http://www.fragilex.org/

2. Fragile X Syndrome - Wikipedia, The Free Encyclopedia
   fragile x syndrome, or MartinBell syndrome, is a syndrome of X-linked mental retardation. Boys with the syndrome may have large testicles (macroorchidism),  
   http://en.wikipedia.org/wiki/Fragile_X_syndrome
   
   Extractions: Location of gene ICD Q ICD OMIM ... MeSH Fragile X syndrome , or Martin-Bell syndrome , is a syndrome of X-linked mental retardation . Boys with the syndrome may have large testicles ( macroorchidism prognathism hypotonia and autism , and a characteristic but variable face with large ears, long face, high-arched palate gynecomastia , and malocclusion . Additional abnormalities may include lordosis , heart defect, pectus excavatum flat feet , shortening of the tubular bones of the hands, and joint laxity. Females who have one fragile chromosome and one normal X chromosome may range from normal to mild manifestations of the fragile X syndrome. The fragile X syndrome has an estimated incidence of 1 in 3600 males and 1 in 4,000–6,000 females. Martin and Bell in 1943, described a pedigree of X-linked mental disability, without considering the macroorchidism. In 1969 Chris and Weesam first sighted an unusual "marker X chromosome" in association with mental disability. In 1970 Frederick Hecht coined the term "fragile site" (Renpenning's syndrome is not synonymous with the syndrome). In Renpennig's syndrome there is no fragile site on the X chromosome. Renpenning's cases had short stature, moderate microcephaly, and neurological disorders.

3. MedlinePlus: Fragile X Syndrome
   fragile x syndrome is the most common form of inherited mental retardation. A problem with a specific gene causes the disease. Normally, the gene makes a  
   http://www.nlm.nih.gov/medlineplus/fragilexsyndrome.html
   
   Extractions: imageNames = false; @import url(http://www.nlm.nih.gov/medlineplus/images/advanced.css); @import url(http://www.nlm.nih.gov/medlineplus/images/header.css); @import url(http://www.nlm.nih.gov/medlineplus/images/menubutton.css); Skip navigation @import url("http://www.nlm.nih.gov/medlineplus/images/consumer_health_20.css"); Other Health Topics: Fragile X Syndrome Also called: FRAXA Fragile X syndrome is the most common form of inherited mental retardation . A problem with a specific gene causes the disease. Normally, the gene makes a protein you need for brain development. But the mutation causes a person to make little or none of the protein, which results in the symptoms of Fragile X.

4. Fragile X Syndrome (FXS) Causes, Signs, Symptoms, And Treatments On MedicineNet.
   Read about fragile x syndrome (FXS or MartinBell syndrome) causes, signs, symptoms, and treatments. Learn the facts about the most common inherited form of  
   http://www.medicinenet.com/fragile_x_syndrome/article.htm
   
   Extractions: References One caregiver's story Reviewed by For the seven-plus years of our marriage, I have been Henry's medical advocate, as his mind was failing, and his primary caregiver, since he gradually lost the ability to walk or do activities of daily living on his own. The journey to a diagnosis began when Doctor #1 suggested Henry might have Parkinson's because of his stiffness and falling; she did several tests and then just never returned our calls because she clearly didn't know what to say. Doctor #2 gave Henry two Parkinson's drugs, but they had no effect; his next guess was that Henry had some small

5. FRAXA - Fragile X Research Foundation
   Nonprofit organization run by parents. Fighting to find a cure for fragile x syndrome and helping Fragile X Family s.  
   http://www.fraxa.org/

6. Fragile X Syndrome - Your Genes, Your Health - DNA Learning Center - Cold Spring
   Your Genes, Your Health, DNA Learning Center s multimedia guide to genetic, inherited disorders fragile x syndrome, sexlinked disorder.  
   http://www.ygyh.org/fragx/description.html
   
   Extractions: Fragile X Syndrome All the symptoms of Fragile X can be traced back to a mutation in one gene — called FMR1— on the X chromosome. People who have Fragile X carry an FMR1 gene that is much bigger than usual. The gene is bigger in a region where three bases — CGG — are repeated. The number of repeats varies from person to person, usually ranging from 7 to 60 repeats in people without Fragile X. The most common version of the gene has 30 repeats. People with Fragile X have 200 or more repeats. In this case, the gene is called a "full mutation." When there are so many repeats in the gene, other molecules called methyl groups attach to the cytosine (C) bases in the repeats. The added methyl groups inactivate, or "turn off," the gene, and the gene fails to produce its protein — FMRP (Fragile X Mental Retardation Protein). Without this protein, a person develops the mental impairment and other characteristics of Fragile X. Exactly how this happens is unclear, but scientists believe FMRP helps produce other proteins. Without FMRP, these other proteins are never made. In the following audio sections, Fragile X researcher Dr. Esther Nimchinsky explains how the absence of these proteins affects cells in the brain. Ironically, when we’re young, we have more connections between our brain cells than when we're older. As we grow and mature, unnecessary connections are cut in a process called pruning. In people with Fragile X, the connections are not pruned. Geneticists frequently use two DNA tests to diagnose Fragile X. Both of these tests measure the size of the FMR1 gene but they cover different ranges. One test – PCR – detects normal-sized genes and pre-mutations, while the other – Southern blot – detects larger, full mutations. The patient need only supply a blood sample to take both tests. Technicians isolate and purify the DNA from the white blood cells after the sample is sent to a lab. First we'll explain the PCR test. In this test, a small segment of DNA containing the FMR1 gene is isolated from the sample and copied millions of times. The next procedure in the test measures the size of the gene. The geneticist loads the DNA into the top of a slab of gel. (The gel looks remarkably like Jello but doesn't taste as good). Several different samples can be loaded into the same gel. After the samples are loaded, electric current "pushes" the DNA fragments down the length of the gel. (Not sideways, not up, just down). As the pieces move down the gel, they wind their way through the tangled gel matrix. Small pieces do this easily so they zip through the gel quickly. Big pieces have a harder time so they move more slowly. After a set period of time, small pieces have migrated to the bottom of the gel, while big pieces have remained near the top. The DNA is invisible but shows up as dark "bands" after it is dyed. This is a real gel showing DNA from two males. (Males have one X chromosome, so they only have one band). The male on the left, with the lower band, has the smaller number of repeats. The male on the right has a larger gene (a pre-mutation) with more repeats. The female patterns are more complicated. Each female has two bands representing her two X chromosomes. The first female has two normal-sized genes with slightly different numbers of repeats. The second female has one normal-sized gene and one pre-mutation with about 58 repeats. Though the PCR test can pick up normal-sized genes and pre-mutations, it can't detect full mutations (200 or more repeats). Geneticists use another test – Southern blot analysis – to detect these larger mutations and diagnose Fragile X. Though the details differ from the PCR test, the gist of the test remains the same: measuring the size of the FMR1 gene. First, enzymes cut the DNA on both sides of the gene. In the diagram below, the enzymes free a small fragment containing a FMR1 gene with 7 repeats. First, enzymes cut the DNA on both sides of the gene. In the diagram below, the enzymes free a small fragment containing a FMR1 gene with seven repeats. When the FMR1 gene has 200 repeats or more, the enzymes free a much larger fragment. In essence, identifying a person with Fragile X is easy. The geneticist simply looks for the presence of this very large fragment on a gel. The large DNA fragment with a full mutation shows up as a fuzzy smear above the dark blue line. The line is a size marker. The blue arrow points to a male with a full mutation (notice he has no other bands), and the red arrow points to a female with a full mutation. She has additional bands representing her other X chromosome. If you're wondering why the full mutation band is so much fuzzier than the others (and if you're not you can quit now), the answer lies in the source of the DNA. Each band is filled with DNA from many different cells. When every cell in the sample contains the same-sized gene, all the DNA fragments migrate to the same spot in the gel, and make a distinct band. When every cell in the sample contains the same-sized gene, all the DNA fragments migrate to the same spot in the gel, and make a distinct band. When cells have different-sized FMR1 genes – as the cells of most people with Fragile X do – the sample contains DNA fragments of various sizes. These migrate to different locations, and the end result is a diffuse smear. Fragile X is just like any other sex-linked disorder, because the "Fragile X" gene (FMR1) is on the X chromosome. The X is one of two types of sex chromosomes: X and Y. Girls have two X chromosomes (making a girl a girl), and boys have one X and one Y (making a boy a boy). This "mismatch" in the sex chromosomes of boys makes them more susceptible to disorders caused by genes on the X. A girl has two X's, and therefore, she has two copies of the FMR1 gene. If one is mutated, she can fall back on the unmutated copy. A boy has only one X. If he has a mutated copy, he has no other copy to fall back on. A boy gets Fragile X when he inherits an X with a FMR1 mutation from his mother. (She is called a "carrier," because she carries the mutation but doesn't have the disorder). For most sex-linked disorders, this would be the end of the story, but Fragile X has an additional mode of inheritance that's just plain weird. In this mode, a boy gets Fragile X when the X from his mother carries a pre-mutation in the gene. (A pre-mutation has between ~55 and 200 repeats and does not cause Fragile X). If a boy inherits the pre-mutation, it can expand into a full-sized mutation during his early embryonic development. In this mode, a boy gets Fragile X when the X from his mother carries a pre-mutation in the gene. (A pre-mutation has between ~55 and 200 repeats and does not cause Fragile X). If a boy inherits the pre-mutation, it can expand into a full-sized mutation during his early embryonic development. Even weirder, the mother's pre-mutation does not always expand into a full mutation in her son. The chance of a pre-mutation (between ~55 and 200 repeats) expanding into a full mutation (greater than 200 repeats) depends on the number of repeats in the pre-mutation. (We'll discuss this more later). Though people with Fragile X are predominantly male, girls can also develop the disorder. Just like a boy, a girl can get Fragile X when she inherits her mother's full-sized mutation. Also like a boy, a girl can get a full mutation from her mother's pre-mutation if the pre-mutation expands. (The chance of a pre-mutation expansion in a girl is the same as the chance in a boy). Notice that we haven't labeled these girls with "Fragile X" signs. That's because, even though they have the full mutation, they may not develop the disorder. We have to consider another weird bit of biology called "X-inactivation." In X-inactivation – a normal process in all females – every cell in the early embryo inactivates one X chromosome. Once inactivated, the chromosome shrivels up and sits on the edge of the cell nucleus. No proteins can be produced from the inactivated X. In each cell, the inactivation is random, like a coin flip. The chance that the mother's X will be inactivated is the same as the chance that the father's X will be inactivated. Though people with Fragile X are predominantly male, girls can also develop the disorder. Just like a boy, a girl can get Fragile X when she inherits her mother's full-sized mutation. Also like a boy, a girl can get a full mutation from her mother's pre-mutation if the pre-mutation expands. (The chance of a pre-mutation expansion in a girl is the same as the chance in a boy). Notice that we haven't labeled these girls with "Fragile X" signs. That's because, even though they have the full mutation, they may not develop the disorder. We have to consider another weird bit of biology called "X-inactivation." In X-inactivation – a normal process in all females – every cell in the early embryo inactivates one X chromosome. Once inactivated, the chromosome shrivels up and sits on the edge of the cell nucleus. No proteins can be produced from the inactivated X. In each cell, the inactivation is random, like a coin flip. The chance that the mother's X will be inactivated is the same as the chance that the father's X will be inactivated. On average, half of the cells inactivate the mother's X, and the other half inactivate the father's X. After each cell inactivates one X, development continues, and each cell produces more "daughter" cells. Daughter cells inherit their chromosomes from the parent cell, so all daughter cells have the same active X as their parent. As development continues further, cells organize into different organs, including the brain. If the girl's brain mostly contains cells with an inactive X from Dad, the cells must use the fully mutated FMR1 gene from Mom's X. This gene does not produce any protein, and this girl develops Fragile X. If the girl's brain mostly contains cells with her Dad's inactive X, the cells must use the fully mutated FMR1 gene from Mom's X. This gene does not produce any protein, so the girl develops Fragile X. If the girl's brain mostly contains cells with her Mom's inactive X, the cells must use the functional FMR1 gene from her Dad's X. This gene produces protein, so the girl will remain unaffected by the disease. These two girls – the completely unaffected and the fully affected – are simply extreme examples in a range of possibilities. Other girls may be only mildly impaired, some may have some learning disabilities, and some may just be socially anxious. About 70% of girls with a full mutation develop some symptoms of Fragile X, while the other 30% are unaffected. Here's one final bit of weirdness about Fragile X inheritance in girls. You may be wondering why we haven't shown a father's pre-mutation expanding into a full mutation in his daughter. Though this is theoretically possible, scientists don't understand why it never happens in reality. Even though the father's pre-mutation may contain many repeats, it doesn't expand in his daughter. However, this father will give his daughter a pre-mutation, which she can pass on to her own children as a pre- or full mutation. Therefore, her father is called a "transmitting male." The chance of a child getting Fragile X depends on the usual laws of inheritance. Let's start with the simplest example: a woman with a full mutation and her partner with no mutation. A Punnett Square easily illustrates their possible children. First, we arrange each parent's genes on the outer edges of the square. A Punnett Square easily illustrates their possible children. First, we arrange each parent's genes on the outer edges of the square. The inner boxes of the square will show what possible combinations (also called genotypes) are possible in the child. Since each parent contributes one of his/her chromosomes to the child, we simply copy and paste the parent's chromosomes into the inner boxes to see the possible genotypes. The inner boxes of the square will show what possible combinations (also called genotypes) are possible in the child. Since each parent contributes one of his/her chromosomes to the child, we simply copy and paste the parent's chromosomes into the inner boxes to see the possible genotypes. Each genotype is equally likely, so there is a 1 in 4 (25%) chance of having an unaffected girl (XX), a 25% chance of having an unaffected boy (XY), a 25% chance of having a girl with the full mutation (XXFRAX), and a 25% chance of having a boy with Fragile X (XFRAXY). Of the four possible genotypes, two contain an X chromosome with a full-sized mutation. So, this couple has a 2 in 4 (50%) chance of having a child with a full mutation. (Remember, though, a girl with the full mutation does not necessarily develop Fragile X.) When the mother carries a pre-mutation on one of her X chromosomes, she also has a 50% chance of passing the pre-mutation to her child. Remember, though, that the pre-mutation can expand into a full mutation in the early embryo. The chance of this happening depends on the number of repeats in the pre-mutation. Remember, though, that the pre-mutation can expand into a full mutation in the early embryo. The chance of this happening depends on the number of repeats in the pre-mutation. Let's say the mother has a pre-mutation with 65 repeats. To calculate her chance of having a child with a full mutation, we multiply the chance of having a child with a pre-mutation (50%) by the expansion risk, in this case 17%.If the mother has a different number of repeats in her pre-mutation, we repeat the math to find out her odds of having a child with a full-sized mutation. (Remember, though, a girl with a full mutation does not necessarily develop Fragile X.) The most important thing to remember about these numbers is that they apply to every child this couple has. This concept is easiest to understand when we consider the following couple that has a 50% chance of passing a full mutation to their child. Each child is a separate "spin of the wheel," so each child has a 50% chance of receiving the full mutation. In this example, one in four children has Fragile X. It's also possible that this couple could have four unaffected children or four children with Fragile X. Notice what the 50% chance does not mean. It does not mean that precisely 50% of this couple's children will have the full mutation. And it does not mean that a second child will have a full mutation if the first one lacks it. (Or vice versa; it does not mean that a second child will lack the full mutation if the first child has it.) Fragile X gets its name from the broken appearance of the X chromosome in people with the disorder. The break is where the Fragile X gene, FMR1, is found. Fragile X individuals are mentally impaired, with problems ranging from slight learning disabilities to severe mental impairment. They may be hyperactive and hyper-sensitive to external stimuli and have short attention spans. Physically, a Fragile X individual may have a long, narrow face, prominent ears, nose and forehead, enlarged testicles and loose joints. Fragile X is the most common inherited cause of mental impairment. An estimated 1 in 2,000 boys are mentally impaired because of Fragile X. Girls are also affected, but the incidence rate is lower and the effects are usually milder. DNA tests identify persons with the disorder and women who are carriers. Approximately 1 in 260 women carry a pre-mutated FMR1 gene. Fragile X is caused by a mutation in the FMR1 gene on the X chromosome. The mutation turns off the production of the FMR1 protein, which is implicated in the development of neuronal connections in the brain. There is no known cure for Fragile X. Current drug therapies are available to improve attention span and decrease hyperactivity. Early intervention and special education programs, including speech and physical therapy, are often beneficial. Treatment Facts and Theories Symptoms Incidence Cause Testing and Screening What is it? What causes it? How is it inherited? How is it diagnosed? What is it like to have it? For more information… Acknowledgments Overview of Treatments Dr. Ted Brown, Director of the New York State Institute Developmental Disabilities, talks about the treatments available to ameliorate Fragile X symptoms. Occupational Therapy Dr. Vicki Sudhalter, a clinical psycholinguist, talks about the need for occupational therapy, whick improves the physical coordination of children with Fragile X. Speech Therapy Classical methods of teaching language do not work with Fragile X children. Dr. Vicki Sudhalter talks about how speech therapy can help. Behavior Therapy Dr. Vicki Sudhalter talks about therapy of the most prevalent behavior: anxiety. Medicines Drugs that regulate hyperactivity and anxiety help 90% of children with Fragile X, according to Dr. Vicki Sudhalter. Gene Therapy Prospects Inserting a new gene into people with Fragile X may provide a complete treatment in as soon as ten years. Early Symptoms Dr. Ted Brown, director of the NYS Institute of Developmental Disabilities, talks about early symptoms in Fragile X individuals. Katie Clapp and Debbie Stevenson talk about symptoms in their sons, Andy and Taylor. Behavioral Severity Debbie Stevenson and Dr. Ted Brown talk about the severity of behaviors in Fragile X individuals. Kinds of Behavior Katie Clapp and Michael Tranfaglia talk about different kinds of behavior in Fragile X individuals and in their son, Andy. Dealing with Meltdowns Debbie Stevenson and Michael Tranfaglia talk about meltdowns (tantrums) in their sons, and how to deal with them.Dealing with others Datie Clapp talks about how strangers react to her son Andy, and what she does about it. Laura Tranfaglia talks about her friends’ reactions to her brother, Andy. Laura Tranfaglia talks about her brother, Andy, who has Fragile X. Debbie Stevenson talks about how her son, Taylor, who has Fragile X, interacts with her son, James.Blame and Guilt Katie Clapp and Michael Tranfaglia talk about their feelings of blame and guilt for their son, Andy, who has Fragile X. Family History Dr. Ted Brown talks about the family history of individuals with Fragile X. Mary Lou Supple and Debbie Stevenson talk about Fragile X in their extended families. Telling Family Katie Clapp and Debbie Stevenson talk about telling other family members and helping them understand their risk of having a child with Fragile X. Older Kids Mary Lou Supple talks about her 13-year old son, James, who has Fragile X. Michael Tranfaglia talks about older children and adults with Fragile X. Expectations Katie Clapp, Debbie Stevenson, and Mary Lou Supple talk about their expectations for their sons: Andy, Taylor, and James, who have Fragile X. Future Debbie Stevenson, Michael Tranfaglia, and Katie Clapp talk about planning for the future of their children with Fragile X. Alzheimer Disease

7. Center For The Study Of Autism
   fragile x syndrome, called MartinBell syndrome, is a genetic disorder and is the most Approximately 15% to 20% of those with fragile x syndrome exhibit  
   http://www.autism.org/fragilex.html
   
   Extractions: Center for the Study of Autism, Salem, Oregon Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation. It is a sex-linked genetic abnormality in which a mother is a carrier, transmitting the disorder to her sons. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment. Approximately 15% to 20% of those with Fragile X Syndrome exhibit autistic-type behaviors, such as poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills. Behavior problems and speech/language delay are common features of Fragile X Syndrome. People with Fragile X syndrome also have a number of recognizable physical features, including a high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities. Although most individuals with Fragile X syndrome have a characteristic 'look' (long face and large ears), there are some who do not have typical features.

8. Fragile X Syndrome - March Of Dimes
   fragile x syndrome is the most common inherited form of mental retardation (1, 2). It affects about 1 in 4000 males and 1 in 8000 females and occurs in all  
   http://www.marchofdimes.com/pnhec/4439_9266.asp
   
   Extractions: Fragile X syndrome is the most common inherited form of mental retardation (1, 2). It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups (1, 2). Fragile X syndrome is a genetic disorder that runs in families. It is caused by an abnormality in a single gene. What are the characteristics of fragile X syndrome? Children and adults with fragile X syndrome have a number of signs and symptoms ranging from mild to severe. Males tend to be more severely affected than females. Common characteristics include: Some degree of mental retardation or learning disabilities. Behavioral problems, such as difficulties paying attention and frequent tantrums. Autistic-like behaviors, such as hand flapping and hand biting. Delays in learning how to sit, walk and talk. Speech problems. Anxiety and mood problems. Sensitivity to light, sounds, touch and textures.

9. Fragile X Syndrome
   This is an open forum support eGroup for fragile x syndrome. It has been established for patients, family, educators and medical professionals interested in  
   http://www.familyvillage.wisc.edu/lib_frgx.htm
   
   Extractions: Web: http://www.fraxa.org/ FRAXA was founded in 1994 by three parents of children with Fragile X, Katie Clapp, Michael Tranfaglia MD, and Kathy May, to support scientific research aimed at finding a treatment and a cure for Fragile X. Fragile X research is drastically underfunded, considering its high prevalence, prospects for a cure, and the promise that this research holds for advancing understanding of other disorders like autism, Alzheimer's disease, and X-linked mental retardation. FRAXA funds grants and fellowships at universities all over the world. We have funded more than $7.5 million dollars in top-notch science. FRAXA's overhead expenses have always been just 9% or less of income, as we have just two paid staff and hundreds of volunteer parents. Since FRAXA was founded, the Fragile X field has grown tremendously, due in large part to our grass-roots efforts. You can help us accomplish much more.

10. Fragile X Syndrome
    For more specific information about symptoms, check out the What are the Signs and Symptoms of fragile x syndrome? section of the NICHD booklet Families and  
    http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm
    
    Extractions: setCookie('myfont', 2, '', '/'); var gMenuControlID=0; var menus_included = 0; var jsPageAuthorMode = 0; var jsSessionPreviewON = 1; var jsDlgLoader = '/health/topics/loader.cfm'; var jsSiteID = 8; var jsSubSiteID = 21; var kurrentPageID = 7633; document.CS_StaticURL = "http://www.nichd.nih.gov/"; document.CS_DynamicURL = "http://www.nichd.nih.gov/"; changeBanner('/health/topics/'); Research ... Health education Last Update: 09/07/2006 Printer Friendly Email This Page Fragile X Syndrome What is Fragile X syndrome? Fragile X syndrome is the most common form of inherited mental retardation. Fragile X happens when there is a change, or mutation, in a single gene called the Fragile X Mental Retardation 1 (FMR1) gene. This gene normally makes a protein the body needs for the brain to develop. But when there is a change in this gene, the body makes only a little bit or none of the protein, which can cause the symptoms of Fragile X. Fragile X is inherited, which means it is passed down from parents to children. Parents can have children with Fragile X even if the parents do not have Fragile X themselves. The changes in the gene can become more serious when passed from parent to child. Some people may only have a small change in their FMR1 gene (called a premutation ) and may not show any signs of Fragile X. Other people may have bigger changes in the gene, called a

11. Fragile X, NCBDDD, CDC
    fragile x syndrome (FXS) is the most common known cause of intellectual disability, Click to view a video about what causes fragile x syndrome  
    http://www.cdc.gov/ncbddd/single_gene/fragilex.htm
    
    Extractions: ADHD ). Males who have FXS usually have some degree of intellectual disability that can range from mild to severe. Females with FXS can have normal intelligence or some degree of intellectual disability with or without learning disabilities. Autism spectrum disorders ( ASDs ) also occur more frequently in children with FXS. What is fragile X syndrome? What causes fragile X syndrome? Click to view a video about what causes fragile x syndrome Content source: National Center on Birth Defects and Developmental Disabilities Single Gene Disorders Home Duchenne/Becker Muscular Dystrophy (DBMD) Fragile X Syndrome (FXS) What is FXS ... Thank you for visiting the CDC-NCBDDD Web site. Click here to contact the National Center on Birth Defects and Developmental Disabilities For specific medical advice related to these disorders, please contact your health care provider. For additional questions about the information on this site, please contact cdcinfo@cdc.gov

12. Fragile X Syndrome - Genetics Home Reference
    fragile x syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and mental retardation.  
    http://ghr.nlm.nih.gov/condition=fragilexsyndrome
    
    Extractions: About Site Map Contact Us A service of the Fragile X syndrome Genetic Conditions On this page: Reviewed May 2007 Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and mental retardation. Usually, males are more severely affected by this disorder than females. Males and females with fragile X syndrome may have anxiety and hyperactive behavior such as fidgeting, excessive physical movements, or impulsive actions. They may also have attention deficit disorder, which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of males with fragile X syndrome also have autism or autistic-like behavior that affects communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Many males with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles (macroorchidism) after puberty.

13. Fragile X Syndrome - Symptoms, Treatment And Prevention
    fragile x syndrome is an X chromosome defect that causes mental retardation and a wide range of associated signs and symptoms.  
    http://www.healthscout.com/ency/68/599/main.html
    
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14. Fragile X Syndrome
    A Policy Statement from the American College of Medical Genetics.  
    http://www.faseb.org/genetics/acmg/pol-16.htm
    
    Extractions: Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype. The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals. The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories. Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). Males and females carrying a premutation are unaffected. Male carriers are referred to as "normal transmitting" males, and they pass on the mutation, relatively unchanged in size, to all of their daughters. These daughters are unaffected, but are at risk of having affected offspring. Variable clinical severity is observed in both sexes. Most, but not all, males with a full mutation are mentally retarded and show typical physical ant behavioral features. Of females with a full mutation, approximately one-third are of normal intelligence, one-third are of borderline intelligence, and one-third are mentally retarded.

15. EMedicine - Fragile X Syndrome : Article By Jennifer A. Jewell
    fragile x syndrome, also termed MartinBell syndrome or marker X syndrome, is the most common cause of inherited mental.  
    http://www.emedicine.com/ped/topic800.htm
    
    Extractions: Author: Jennifer A Jewell, MD, MS, Clinical Assistant Professor, Department of Pediatrics, University of Vermont School of Medicine; Pediatric Hospitalist, The Barbara Bush Children's Hospital at Maine Medical Center Jennifer A Jewell is a member of the following medical societies: American Academy of Pediatrics American Medical Association Massachusetts Medical Society , and Sigma Xi Editors: Michael Fasullo, PhD

16. Fragile X Syndrome
    Article describes fragile x syndrome, its symptoms, diagnosis, and treatment.  
    http://rarediseases.about.com/od/rarediseasesf/a/fragilex05.htm
    
    Extractions: zOBT=" Ads" zGCID=" test1" zGCID=" test1 test5" zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') z160=zpreC(160,600);z336=zpreC(336,280);z728=zpreC(728,90);z133=zpreC(336,133);zItw=160 var h2=document.getElementsByTagName("h2")[0];if(h2.getElementsByTagName("a")[0].firstChild.nodeValue.length>29)h2.className="long"; Home Health Rare Diseases Search over 1.4 million articles by over 600 experts Rare Diseases About.com Search h1 = document.getElementById("title").getElementsByTagName("h1")[0];h1.innerHTML = widont(h1.innerHTML); By Mary Kugler, R.N. , About.com Updated: November 21, 2005 About.com Health's Disease and Condition content is reviewed by our Medical Review Board Fragile X syndrome is caused by a genetic defect of a single gene on the X (female) chromosome. Fragile X syndrome affects approximately 1 in 4,000 males and 1 in 8,000 females. Women have two X chromosomes, and a normal X chromosome may mitigate the effects of a defective X chromosome. Fragile X syndrome affects people of all ethnic backgrounds. It is the most common cause of inherited mental retardation. Symptoms

17. X-linked Mental Retardation
    fragile x syndrome is the most common inherited form of mental retardation fragile x syndrome is a defect in the X chromosome and its effects are seen  
    http://www.ncbi.nlm.nih.gov/disease/FMR1.html
    
    Extractions: In normal individuals, the FMR1 gene is transmitted stably from parent to child. However, in Fragile X individuals, there is a mutation in one end of the gene (the 5' untranslated region), consisting of an amplification of a CGG repeat. Patients with fragile X syndrome have 200 or more copies of the CGG motif. The huge expansion of this repeat means that the FMR1 gene is not expressed, so no FMR1 protein is made. Although the exact function of FMR1 protein in the cell is unclear, it is known that it binds RNA. A similar nucleotide repeat expansion is seen in other diseases, such as Huntington disease. Research in mice has proven helpful in elucidating some of the mechanisms that cause the instability of this gene. Our methods for identifying carriers of Fragile X syndrome have also improved, and further research will help people carrying 'premutations' to avoid having children who have a larger expansion (ie more CGG repeats) in FMR1, and therefore suffer from fragile X syndrome.

18. The National Fragile X Foundation - Fragile X Syndrome
    Fragile X is the leading inherited cause of mental retardation. This site creates a virtual research center in Israel for the research and cure of Fragile  
    http://www.conquerfragilex.org/

19. Fragile X Syndrome
    fragile x syndrome is a form of mental retardation caused by a mutated gene on the X chromosome. It is called fragile x syndrome because the long arm of the  
    http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm

20. Your Child | Fragile X Syndrome
    fragile x syndrome (also called FRAXA) is the most common cause of inherited mental retardation. It is also the most common known cause of autism.  
    http://www.med.umich.edu/1libr/yourchild/fragilex.htm
    
    Extractions: What is Fragile X syndrome? Fragile X syndrome (also called FRAXA) is the most common cause of inherited mental retardation. It is also the most common known cause of autism. It affects about 1 in 4000 males and 1 in 8000 females To learn more about genetics and to better understand how genes cause syndromes, see Your Child: Genetic Syndromes What causes Fragile X syndrome? It is inherited. It is caused by mutation of a gene ( ) on the X-chromosome. Normally, the gene makes a protein needed for brain development. But the mutation causes a person to make less or none of the protein, which causes Fragile X syndrome. People with a small change in the FMR1 gene might not show any sign of the syndrome. Bigger changes in the gene cause more severe symptoms. Genetic testing for Fragile X is possible. Mothers may be a carrier of the mutation and pass it on to their children. Or, a mother may have a pre-mutation that expands to a full mutation when passed on to the next generation. Boys are affected more severely than girls, because girls have another X chromosome, which usually does not have the mutation and can partially compensate for the nonfunctioning one. Boys have only one X chromosome (and one Y chromosome).

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