Fragile X Syndrome Research Paper

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Fragile X syndrome is the most common cause of intellectual disability that can be inherited. Fragile X syndrome is cause by a mutation in a gene on the X-chromosome; this gene is called the fragile X Mental Retardation-1 or FMR-1 gene. The FMR-1 gene is found in every part of the body and it is a crucial protein for normal brain development. In the case of fragile X-syndrome the FMR-1 gene does not produce the protein or does not make enough preventing the brain to develop normally (National Center on Birth Defects and Developmental Disabilities, Centers of Disease Control and Prevention). There is no exact number of people who have fragile X syndrome but it is estimated about 1 in 5,000 males. Females on the other hand have slighter symptoms than males, only 1 in 8,000 (National Center on Birth Defects and Developmental Disabilities, Centers of Disease Control and Prevention). …show more content…
There are physical, emotional and behavioral signs associated with fragile X syndrome. The physical features of fragile X syndrome include a large forehead or ears with a prominent jaw, an elongated face and flat feet (Healthline). The emotional features of fragile X syndrome include anxiety and depression (Healthline). The behavioral features of fragile X syndrome include hyperactivity, attention problems and impulsiveness (Healthline). If a parent is concern about their child there is a DNA blood test called the FMR1 DNA test. The test then check for changes in the FMR1 gene which is linked with fragile X syndrome

Fragile X Syndrome Research Paper

Name of Disorder Chromosomal Location Fragile X syndrome is the result of a mutation in the fragile X mental retardation-1 gene. This gene is located on the long arm of the X chromosome at position 27.3. This specific chromosomal site is often referred to as a fragile site (Claudia Bagni). Type of Inheritance Fragile X syndrome is transmitted through X-linked dominant inheritance. This syndrome exhibits incomplete penetrance, usually only penetrating approximately 80% (Peng Jin). Mothers and fathers…

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