Abstract
A male patient came into my office with his father. His father was healthy, but his son had a large head, long face, prominent forehead and large ears. He had trouble making eye contact and showed hyperactivity and behavior problems of autism throughout our appointment. After further hearing the symptoms, I tested patient X with PCR analysis and found there was a mutation, proving my theory and this boy's diagnosis of Fragile X syndrome.

Symptoms: Male
A moderate mental retardation.
They have an abnormal facial appearance, characterized by a large head size, a long face, prominent forehead and chin and protruding ears.
Loose joints (joint laxity), and large testicles (after puberty).
Behavioral problems such as hyperactivity, hand …show more content…
The lengthening that occurs, happens because of a repeat of CGG genes that exceeds 200, and hyper methylates the gene leading to the absence of the protein FMRP. The protein FMRP that is involved in brain development and other functions. This protein regulates the production of other proteins and plays a role in the development of synapses, which are specialized connections between nerve cells that are critical for relaying nerve impulses. The number of CGG repeats varies from one person to another and people with 55 to 200 repeats of the CGG segment in the gene are said to have an FMR1 premutation, which is much less severe. How People Get FXS
Fragile X is an inherited disease on the X chromosome. For a child to get FXS, one or both of their parents must be carriers and have a pre-mutation of Fragile X syndrome. Many people with the pre-mutation experience no symptoms, but some experience mild symptoms of Fragile X such as anxiety, difficulty from social interaction, ADHD, and depression. With Fragile X, only mothers can pass the syndrome on to sons, which causes the higher level of Fragile X in males Normal Day in Life of FXS Patient/Overall …show more content…
Additionally, medication can be used to treat anxiety and mood disorders. Often Fragile X is lifelong, but in some cases the intense therapy can extremely lesson the lifelong effects of the syndrome. Additionally, to help the parents and the patients, through the National Fragile X Foundation, there are many support groups available. Population Affected
Similar to the majority of X-linked chromosome disorders, Fragile X is far more common in males than females. Fragile X affects 1 in 4000 males and 1 in 7000 females of all races and ethnic groups, and about 1 in 259 women carry fragile X and could pass it to their children. Additionally, Fragile X syndrome is the most common inherited cause of intellectual disabilities and the most common known cause of autism. Tests For Fragile X
A diagnosis of Fragile X is made through a polymerase chain reaction (PCR) analysis that determines the actual number of “CGG repeats” that are present in the FMR1 gene. PCR is quite accurate in determining premutation and normal gene repeat numbers. Also, there is the Southern blot analysis test that determines if the gene has a full mutation, whether the gene has been methylated and if there is a mixture of different cell types of the