alexa Fragile x syndrome | Mexico | 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

    As reported , the frequency of fragile X premutation was,1 in 151 females, or about 1 million women in the Mexico and1 in 468 males, or about 320,000 men in the United States.These statistics are important because both men and women are at risk for having symptoms linked to fragile X-associated disorders.

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