Fragile X Syndrome Aryell Aquino p3

A) Individuals with over 200 CGG repeats have a full mutation of the FMR1 gene, which causes Fragile X syndrome.

B) The chromosome that causes this syndrome is the X chromosome .

C) Fragile X syndrome is typically due to the expansion of the CGG triplet repeat within the Fragile X mental retardation 1 gene on the X chromosome. This results in a failure to express the fragile X mental retardation protein , which is required for normal neural development.

https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/commonsymptoms.aspx

D) specific genetic test (polymerase chain reaction [PCR]) can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene.

E) While there is currently no cure for Fragile X syndrome (FXS), there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress.

F) fragile x syndrome is inherited an X-linked dominant pattern.

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