Fragile X Syndrome (Fxs)

The Fragile X Syndrome (FXS) is a genetic abnormality in an X chromosome, leading to mental retardation, and abnormal behavior.

FXS is the most common inherited cause of moderate mental retardation, and men are more likely than women affected. (Down syndrome is the most common cause of mental retardation in males. Although there is a genetic disease, most cases occur sporadically and not veerbt on.) For more information see. under the National Fragile X Foundation.

The Fragile X Syndrome (FXS) is a genetic abnormality in an X chromosome, leading to mental retardation, and abnormal behavior. FXS is the most common inherited cause of moderate mental retardation, and men are more likely than women affected. (Down syndrome is the most common cause of mental retardation in males. Although there is a genetic disease, most cases occur sporadically and not veerbt on.) For more information see. under the National Fragile X Foundation. The symptoms of FXS be caused by an abnormality of the FMR1 gene on the X chromosome. The anomaly is an unstable triplet repeat expansion; ordinary people who 200. It is assumed that people have a premutation with 60-200 CGG repeats, because the increased number of repetitions increases the likelihood of a further mutation at> perform 200 reps on a subsequent generation. Due to the relatively small number of base pairs involved, the fragile X syndrome is not considered a chromosomal abnormality. FXS affects approximately one of 4,000 men and one in 8,000 women. The premutation is more common. Women with this disorder are typically less affected than men. FXS is inherited X-linked and does not always lead to clinical symptoms. In the past, a karyotyping showed a constriction at the end of the long arm of the X chromosome, followed by a thin strand of genetic material. This was the reason why this syndrome was considered as a chromosomal abnormality. However, this structural defect does not appear when modernenogenetische techniques are used, and this is the reason why FXS is now regarded as a failure of a single gene and not more than a chromosomal abnormality. Symptoms and complaints People with FXS can physical, cognitive and behavioral problems have. Typical features are large, protruding ears, prominent chin and forehead, a high palate and in post-pubertal males, Makroorchidismus. The joints may be hyperflexible and heart disease (mitral valve prolapse) may occur. Cognitive disorders are mild to moderate. Characteristics of autism may develop, including a redundancy in speech and behavior, poor eye contact and social anxiety. Women with premutation may have premature ovarian failure, sometimes the menopause occurs in the mid-30s. Diagnostic DNA testing FXS is often noticeable only at school age or adolescence, depending on the severity of symptoms. Boys with autism and intellectual disabilities should be tested for FXS. A molecular DNA analysis is performed to detect an increased number of CGG repeats. Treatment Supportive care early intervention, including speech therapy and occupational therapy can help children with FXS to develop their skills. Stimulants, antidepressants and drugs for anxiety disorders may be beneficial for some children. More information National Fragile X Foundation

Health Life Media Team

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