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Fragile X Syndrome: more books (85)

Fragile X carrier men face syndrome in later life.(Clinical Rounds): An article from: Family Practice News by Linda Little, 2005-06-01
Fragile X Fragile Hope: Finding Joy In Parenting A Child with Special Needs by Elizabeth Griffin, 2004-11-01
Dear Megan: Letters on Life, Love and Fragile X (Capital Cares) by Mary Beth Busby, 2006-07-25
The Fragile X Child by Betty B. Schopmeyer, 1992-10
1992 International Fragile X Conference proceedings
Angina Pectoris with Normal Coronary Arteries: Syndrome X (Developments in Cardiovascular Medicine)
Fragile Sites on Human Chromosomes (Oxford Monographs on Medical Genetics) by Grant R. Sutherland, Frederick Hecht, 1985-05-02
Genome Maps & Neurological Disorders (Genome Analysis Series; Vol. 6)
New fragile X often misdiagnosed as Parkinson's.(Across Specialties): An article from: Clinical Psychiatry News by Timothy F. Kirn, 2004-03-01
Fragile X mental retardation protein levels increase following complex environment exposure in rat brain regions undergoing active synaptogenesis [An article from: Neurobiology of Learning and Memory] by S.A. Irwin, C.A. Christmon, et all 2005-05-01
Limiting damage: fragile X symptoms modulated in mice.(This Week): An article from: Science News by P. Barry, 2007-12-22
New fragile X condition affects males over age 50: develops a pseudo-Parkinson's disease.(Clinical Rounds): An article from: Family Practice News by Timothy F. Kirn, 2004-03-01
Flawed stem cells yield fragile X clues: researchers study genetic disorder via discarded embryos.(SCIENCE NEWS This Week): An article from: Science News by B. Vastag, 2007-11-17
Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size ... alleles.: An article from: Human Biology by Yvette Curlis, Cuiling Zhang, et all 2005-02-01

lists with details

Fragile X Syndrome
fragile x syndrome. Who to Contact Site Index. fragile x syndrome. fragile x syndrome is the most common form of inherited mental retardation.
http://www.ggc.org/Diagnostics/Molecular/fragile_x_syndrome.htm

Extractions: Who to Contact Site Index 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: 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.
Fragile X Syndrome - Wikipedia, The Free Encyclopedia
fragile x syndrome. fragile x syndrome is the most common cause of mental retardation, affecting approximately 1 in 1500 males and 1 in 3000 females.
http://en.wikipedia.org/wiki/Fragile_X_syndrome

Extractions: Fragile X Syndrome is the most common cause of mental retardation , affecting approximately 1 in 1500 males and 1 in 3000 females . It is a genetic disorder caused by a mutation of the FMR1 gene on the X chromosome . Typically the FMR1 gene contains between 6 and 53 repeats of the CGG codon . In people with the disorder, the FMR1 allele has over 230 repeats. Expansion to such a degree results in a methylation of that portion of the DNA , effectively silencing the expression of the FRM1 protein . The characteristic constriction of the X chromosome at the chromosomal locus Xq27.3 is caused by this methylation. Because men have only one copy of the X chromosome, males with sufficient trinucleotide expansion are symptomatic, while females have two X chromosomes and thus double the chance of a working allele (unless parents are related). Aside from mental retardation , the most obvious indicators include physical differences and behaviors commonly associated with autism . Of the former, the most readily visible are an elongated face and large or protruding ears, but others are also frequently present. Of the latter, behavioral stereotypy and atypical social development are the most frequently observed.
TheFetus.net - Fragile-X Syndrome-Jose Sierra, MD, Philippe Jeanty, MD, PhD
Definition fragile x syndrome is now a well established clinical entity which is the prototype of a series of inherited neurodevelopmental disorders caused by
http://www.thefetus.net/page.php?id=991
THE MERCK MANUALSECOND HOME EDITION, Fragile X Syndrome In Ch.
fragile x syndrome. fragile x syndrome is a genetic abnormality in an X chromosome that leads to delayed development and other symptoms.
http://www.merck.com/mrkshared/mmanual_home2/sec23/ch266/ch266c.jsp
Fragile X Syndrome
fragile x syndrome is a defect of the X chromosome which causes mild mental retardation. National Organization for Rare Disorders, Inc. fragile x syndrome.
http://www.bchealthguide.org/kbase/nord/nord586.htm

Extractions: It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Information on the following diseases can be found in the Related Disorders section of this report: Fragile X Syndrome is a defect of the X chromosome which causes mild mental retardation. The disorder occurs more frequently and severely among males than females. This condition is the leading known familial cause of mental retardation in the United States. Language delays, behavioral problems, autism or autistic-like behavior (including poor eye contact and hand-flapping), enlarged external genitalia (macroorchidism), large or prominent ears, hyperactivity, delayed motor development and/or poor sensory skills are among the wide range of symptoms associated with this disorder. Fragile X Syndrome is characterized by connective tissue abnormalities such as joints which may be extended beyond normal limits (hyperextensible) and heart problems including mitral valve prolapse. Flat feet, large external genitalia (macroorchidism), large ears, and/or frequent ear infections (otitis media) also occur. Additionally, low muscle tone, a long narrow face, high arched palate, dental problems and an inability of the eyes to look in the same direction (strabismus) are common characteristics. Delayed motor development, hyperactivity, behavior problems, toe walking, and/or occasional seizures can also occur in some patients. Autism (a neurological behavior disorder) or autistic like behavior may include poor eye contact, hand flapping, and/or self-stimulating behaviors. (For more information about Autism, please choose "Autism" as your search term in the Rare Disease Database.)
Fragile X -Overview
What is fragile x syndrome? Physical Features, Development, Behavior, Genetic Aspects, Detection, Inheritance. What are the effects of fragile x syndrome?
http://www.fpg.unc.edu/~fx/Pages/overvu.htm

Extractions: Development, Behavior, Genetic Aspects, Detection, Inheritance. Early Identification. Supporting Extended Families, Treatments, Fragile X and Autism Fragile X syndrome is the most common known cause of mental retardation and developmental disabilities, with an incidence of between 1:2500 and 1:4,000 births. It is a single gene disorder on the X chromosome that occurs in both males and females, but males are typically affected more severely. The disorder can be passed down through generations in a carrier status, with increasing chances of the gene expanding into the full disorder. FXS shuts down the gene responsible for producing FMRP, a protein essential for normal brain function. What are the effects of fragile X syndrome? Fragile X is associated with a wide spectrum of characteristics, which may or may not be seen in a given individual.
Fragile X Syndrome
Benjamin P. Sun Biology 317 Web Assignment Dr. John Mullican Due March 31, 1999 fragile x syndrome. fragile x syndrome. by Benjamin P. Sun.
http://www.creighton.edu/~bensun/fragX.htm

Extractions: Due: March 31, 1999 Fragile X Syndrome Chromosome X Fragile X Syndrome by Benjamin P. Sun Fragile X Syndrome (or sometimes referred to as Martin-Bell Syndrome) is the most common form of inherited mental retardation. As indicated by the name, this type of mental retardation contains an X -linked pattern of inheritance. For that reason, it is much more commonly seen in males (XY) as opposed to females (XX) because the defect in the male X has nothing to mask it. Those males that are afflicted, typically have moderate-to-severe intellectual handicap, a long face, big ears, and macroorchidism (Turner, 1992). Approximately, 1/1200 males are afflicted while only 1/2500 females possess the disorder. For the most part, females with Fragile X Syndrome are not as severely mentally retarded and in some cases, the Fragile X is not even expressed (Willemsen, 1995).
Fragile X Syndrome
fragile x syndrome. FMR1 and the fragile x syndrome. FMR1 and the Fragile X FMR1 and the fragile x syndrome. FMR1 and the Fragile X
http://bioresearch.ac.uk/browse/mesh/C0016667L0016667.html

Extractions: low graphics other: Down Syndrome Oculocerebrorenal Syndrome FMR1 and the fragile X syndrome FMR1 and the Fragile X Syndrome is one in a series of fact sheets available from the Human Genome Epidemiology Network (HuGENet) which summarise information about a particular gene, its variants, and associated diseases. Authored by Dana C. Crawford and published in July 2001, this fact sheet discusses the fragile X mental retardation- 1 (FMR1) gene, prevalence of gene variants, disease burden, gene interactions, laboratory tests, and population testing. References and links to relevant Web sites are also provided. This fact sheet is produced by the Office of Genetics and Disease Prevention (OGDP) at the National Center for Environmental Health (NCEH), and made available on the Web by the US Centers for Disease Control and Prevention (CDC). Trinucleotide Repeats Polymorphism (Genetics) Nerve Tissue Proteins / genetics Molecular Diagnostic Techniques ... Epidemiology, Molecular
FRAGILE X SYNDROME
fragile x syndrome. Incidence 1/3500 males; 1/6000 females; all ethnic groups. fragile x syndrome Diagnostic and Carrier Testing. Introduction.
http://labmed.hallym.ac.kr/cytogenetics/FraX.htm

Extractions: Incidence: 1/3500 males; 1/6000 females; all ethnic groups Phenotype: Abnormal facies, macroorchidism, MR Karyotype : FRAXA at Xq27.3 in 50% of mitoses INHERITANCE PATTERN: X-linked...BUT Polymorphic CGG repeat in first exon Normal: 6 to 52; mode 30; transcriptionally active Premutation: 50 to 230; transcriptionally active expands when transmitted by the mother; prob. proportional to size Warren ST, Nelson DL:
Fragile X Syndrome
fragile x syndrome. Introduction. fragile x syndrome is the most common geneticallyinherited form of mental retardation currently known.
http://www.kidneeds.com/diagnostic_categories/articles/fragilexsyndrome.htm

Extractions: FRAGILE X SYNDROME Introduction Fragile X syndrome is the most common genetically-inherited form of mental retardation currently known. In addition to intellectual disability, some individuals with Fragile X display common physical traits and characteristic facial features, such as prominent ears. Children with Fragile X often appear normal in infancy but develop typical physical characteristics during their lifetime. Mental impairment may range from mild learning disability and hyperactivity to severe mental retardation and autism. This genetic syndrome is caused by a defect on the X chromosome. Because of scientific advances, improvements in genetic testing, and increased awareness, the number of children diagnosed with Fragile X has increased significantly over the last decade. We do not yet have a complete understanding of the mechanism of genetic transmission of Fragile X. For example, it is not known why approximately one-fifth of males who carry mutated forms of FMR-1 are either unaffected or only mildly affected. In some cases, a single copy of the Fragile X gene is sufficient to cause the syndrome in females. The situation is made more complex by the fact that the intensity of the symptoms increases with succeeding generations. The observable characteristics of Fragile X occur in approximately 1 in 1,000 male births and 1 in 2,500 female births.
Fragile-X Syndrome - Preliminary Draft
Symptoms of the fragile x syndrome include mental impairment, ranging from learning disabilities to mental retardation; attention deficit and hyperactivity
http://srv2.lycoming.edu/~newman/courses/bio22298/disorderpapers/FragileX/prelim

Extractions: Fragile-X Syndrome Sex linked or X-linked inhertitance is the inheritance of traits governed by loci on the same sex chromosome. The fragile-X syndrome is an X-linked cause of mental retardation. It is the most common inherited form of mental retardation, with an incidence as high as one per 1500 males and one in 2500 females (Purves et al. 1995). It affects about one in one thousand live born males while three in one thousand females are known carriers (Poston 1991). Males are typically more severly affected than females. About one-third to one-half of females have significant intellectual impairment and the rest have learning disabilities, and some even have normal IQ, where as most males have mental retardation ( http://www.FRAXA.org/whatsfrx.html ). Of those people with the disorder, 80 to 90% of them are not correctly diagnosed ( http://www.FRAXA.org/whatfrx.html The gene that causes the fragile-X syndrome, called fragile-X mental retardation-1 (FMR1), was discovered by scientists in 1991. A defect in this gene (a full mutation) shuts down the gene and it can no longer manufacture the protein that it normally makes. Carriers of this syndrome have a small defect in the FMR1 gene, called a premutation, but do not show symptoms for the syndrome like those with the full mutation does ( http://www.FRAXA.org/whatfrx.html
New Insight Into Fragile X Syndrome: Scientists Identify Possible Link To RNAi
New insight into fragile x syndrome Scientists identify possible link to RNAi. Two independent research groups, led by Drs. Haruhiko
http://www.eurekalert.org/pub_releases/2002-09/cshl-nii091702.php

Extractions: Cold Spring Harbor Laboratory Two independent research groups, led by Drs. Haruhiko Siomi (Institute for Genome Research, University of Tokushima, Japan) and Gregory Hannon (Cold Spring Harbor Laboratory, USA) have discovered that the Drosophila version of the human fragile X mental retardation protein associates with components of the RNAi pathway, suggesting that the molecular mechanism underlying fragile X syndrome may involve an RNAi-related process. "It has been our feeling since we became involved in the field several years ago that only through an understanding of the mechanism of RNAi would we be able to understand the biological implications of this process," states Dr. Hannon. Fragile X syndrome is the most common form of hereditary mental retardation, affecting 1 in 4000 males and 1 in 8000 females. Fragile X syndrome is the result of a genetic mutation at one end of the fragile X mental retardation 1 gene (FMR1) that causes the abnormal inactivation of the gene. It is known that the protein encoded by FMR1 the so-called fragile X mental retardation protein (FMRP) binds to RNA and is thought to regulate the expression of specific genes during neural development, but the mode of FMRP action in cells is yet to be defined. This work provides some important clues.
Fragile X Syndrome
fragile x syndrome. Table 1. Molecular Genetic Testing Used in fragile x syndrome. Test Method. Mutations Detected. Mutation Detection Rate. Test Availability.
http://www.geneclinics.com/profiles/fragilex/details.html

Extractions: 20 April 2004 Disease characteristics. Fragile X syndrome is characterized by moderate mental retardation in affected males and mild mental retardation in affected females. Diagnosis/testing. The diagnosis of fragile X syndrome rests on the detection of an alteration in the gene . More than 99% of affected individuals have a full mutation in the gene caused by an increased number of CGG trinucleotide repeats methylation of the gene . Both increased trinucleotide repeats and methylation changes in can be detected by molecular genetic testing . Such testing is clinically available. Genetic counseling All mothers of a child with an gene full mutation (expansion carriers of an gene expansion. They and their family members are at increased risk of having children with fragile X syndrome and should be offered molecular genetic testing and recurrence risk counseling based on the results. This counseling is complex and should be provided by a knowledgeable genetics professional.
Ask NOAH About: Fragile X Syndrome
Ask NOAH About fragile x syndrome.
http://www.noah-health.org/english/illness/genetic_diseases/fragilex.html

Extractions: Complications and Concerns Care and Treatment ... Information Resources Diagnosis and Symptoms Characteristics of Fragile X Syndrome - National Fragile X Foundation Fragile X Syndrome Checklist - National Fragile X Foundation Physical Characteristics - National Fragile X Foundation What are the Common Symptoms of Fragile X? - FRAXA ... What are the Symptoms? - Northern California Fragile X Association Testing for Fragile X Syndrome Genetic Testing for Fragile X Syndrome - National Fragile X Foundation Impact of Testing on Families - National Fragile X Foundation Is There a Way to Test for Fragile X? - FRAXA
SupportPath.com: Fragile X Syndrome
fragile x syndrome. Other topics of interest on SupportPath.com Learning Disabilities, Mental Retardation. Clinical Trials Research on fragile x syndrome
http://www.supportpath.com/sl_f/fragile_x_syndrome.htm

Extractions: Description: "The National Fragile X Foundation unites the fragile X community to Enrich lives through educational and emotional support, Promote public and professional awareness, and Advance research toward improved treatments and a cure for fragile X syndrome." Their website features information on Fragile X, testing, treatment and local support group listings.
Fragile X Syndrome
one of hte most common inherited causes of mental retardation is the fragile x syndrome. List of Diseases . fragile x syndrome.
http://www.tylermedicalclinic.com/fragile x syndrome.htm

Extractions: The Tyler Medical Clinic Assisted Conception - Affordable Infertility Treatments - List of Diseases - Fragile X Syndrome One of the most common inherited causes of mental retardation is the Fragile X Syndrome. Its symptoms include mental retardation of varying severity, learning difficulties, attention deficit hyperactive disorder (ADHD), etc. Affected males generally have enlarged ears, long face and prominent chin, autistic-like behavior and speech impediments. Connective tissue abnormalities may also be present, which may lead to ear infections, flat feet, double-jointed fingers and other skeletal problems. It predominantly affects males, although females may also be affected but with less pronounced symptoms. Affected females also tend to express extreme shyness, attention problems and depression. Fragile X Syndrome is an X-linked disorder caused by mutations on the FMR1 gene, which is involved in brain development. The FMR1 gene contains a region where the DNA sequence is repeated several times. An individual with a few more than normal number of repeats of this sequence is considered a carrier of this disease. A carrier generally does not show any symptoms. An estimated one in three hundred women are carriers. An individual affected with Fragile X Syndrome has a significantly higher number of repeats than a carrier and is referred to as a full mutation patient. There is currently no cure for Fragile X syndrome. Treatments for Fragile X deal not with the underlying disorder but with the symptoms. These include various medications to address any aggression, anxiety or attention disorder that affected individuals might experience. Patients are usually enrolled in special education, undergo speech and physical therapy. Due to the varying extent of these symptoms, it is important that each patient be carefully diagnosed so a treatment plan may be devised specifically for the needs of that patient.
Fragile X Syndrome (Adults)
Effects of an investigational drug on Cognition and Functioning in fragile x syndrome and Autism. fragile x syndrome (Adults). Clinical
http://www.rush.edu/rumc/page-R10321.html
Fragile X Syndrome Clinic
fragile x syndrome Clinic. Patients must have a diagnosis of fragile x syndrome to make an appointment, which are often made two to three months in advance.
http://www.rush.edu/rumc/page-R12247.html

Extractions: Elizabeth Berry-Kravis, MD, PhD, a pediatric neurologist with training in biochemistry and molecular biology, directs the Fragile X Clinic at Rush. Dr. Berry-Kravis has been involved in research and clinical work with individuals with fragile X syndrome for 14 years, and was recently honored at the National Fragile X Conference with the National Fragile X Foundation Jarrett Cole Clinical Award.
Fragile X Syndrome - Encyclopedia Article About Fragile X Syndrome. Free Access,
encyclopedia article about fragile x syndrome. fragile x syndrome in Free online English dictionary, thesaurus and encyclopedia. fragile x syndrome.
http://encyclopedia.thefreedictionary.com/Fragile X syndrome

Extractions: Dictionaries: General Computing Medical Legal Encyclopedia Word: Word Starts with Ends with Definition Fragile X Syndrome is the most common cause of mental retardation In broad terms, the phrase learning disability covers any of a range of conditions that affect a person's ability to learn new information. These conditions all affect the brain in some fashion. The most common causes are: Click the link for more information. , affecting approximately 1 in 1500 males Male is a sex that denotes an organism which produces sperm cells in order to reproduce. (The sperm is defined as the smaller gamete). The male is one half of a heterogamous reproduction system, where the female is the other half. 'Male' and 'female' designate reproductive structures in plants, so the concept is not just limited to animals.
Kennedy Krieger Institute Fragile X Syndrome
KKI Logo. Print this page. fragile x syndrome. fragile x syndrome is a hereditary condition which causes a wide range of mental impairment, from mild learning
http://www.kennedykrieger.org/kki_diag.jsp?pid=1086

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