alexa Fragile x syndrome | Australia | PDF | PPT| Case Reports | Symptoms | Treatment

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Fragile X Syndrome

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  • Fragile x syndrome

    Introduction

    Fragile X syndrome is also called as Martin–Bell syndrome, or Escalante's syndrome is a genetic syndrome. Nearly half of all children with fragile X syndrome meet the criteria for a diagnosis of autism. It is an inherited cause of intellectual disability especially among boys. It is caused by defect in chromosome Xq 27.3 .

  • Fragile x syndrome

    Symptoms

    Aside from intellectual disability, prominent characteristics of the syndrome may include an elongated face, large or protruding ears, flat feet, larger testes and low muscle tone. Recurrent otitis media and sinusitis is common during early childhood. Speech may be cluttered or nervous.

  • Fragile x syndrome

    Treatment

    Fragile X syndrome is a genetic disorder which occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1)gene on the X chromosome, most commonly an increase in the number of CGG tri nucleotide repeats in the 5' un translated region of FMR1.

  • Fragile x syndrome

    Statistics

    In Australia about 44% of women with FXS achieved a high or very high level of independence in adult life. More than one third of women with FXS lived independently, often with a spouse or romantic partner, and required no assistance with activities of daily living. The large majority of women had at least a high school diploma; almost half had full-time jobs (and typically received benefits from their job).

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