Sixth international workshop on the fragile X and X-linked mental retardation.
نویسندگان
چکیده
The meeting, to be held in Cairns, North Queensland, Australia, on 3-6 August 1993, will focus on all aspects of research into fragile X syndrome and other forms of X linked mental retardation. It is designed primarily for those actively involved in research in these areas and all participants will be expected to contribute actively to the workshop format of the meeting. For more information please contact: Dr Grant R Sutherland, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia. Tel: (08) 204 7333 or fax: (08) 204 7342. NOTICE
منابع مشابه
گزارش یک مورد سندرم ایکس شکننده همراه با ناهنجاری انگشتان
Fragile X Syndrome, the most common cause of inherited mental retardation, results from mutation in fragile X mental retardation gene (FMR1) on long arm of X chromosome, Xq27.3. Clinical features include moderate to severe mental retardation without neurologic deficit, long face, large ears, prominent jaw, macro-orchidism, attention deficit, behavior di...
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ABSTRACT The fragile X syndrome is the most frequent cause of inherited mental retardation. The fragile site is on the long arm of X chromosome in X q27.3 region. Incidence of syndrome is 1 in 2000 in males and 1 in 2500 in females. This fragile site is visible only with using of special cultural technices. Since females have two X chromosomes, this signs apear less than males. The females who...
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Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently unknown. Here, we present an X-ray crystal str...
متن کاملRole of microRNA pathway in mental retardation.
Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP). MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides i...
متن کاملObsessive-Compulsive Disorder and Hyperphagia in a Boy with Fragile X Syndrome: A Case Report
Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...
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عنوان ژورنال:
- American journal of medical genetics
دوره 51 4 شماره
صفحات -
تاریخ انتشار 1994