The abnormality that is responsible for Fragile X Syndrome is the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation.
The genetic abnormality has been mapped on the X chromosome.
This shows the extended X chromosome at the end.
The phenotype of fragile X syndrome is when the person will have large ears, speech impairment, anxiety, double jointed, enlarged head, flat feet, sunken chest, and more. It is unlikely for one person with fragile X syndrome to have all of these features.
This picture show the difference from a foot from someone without fragile X syndrome and someone with fragile X syndrome. On the left is a normal foot and on the right is a foot from a person with Fragile X syndrome.
This image show's a kid with fragile X syndrome. He has a long face along with long ears.
This genetic disorder is diagnosed by performing a specific genetic test (polymerase chain reaction[PCR]). This test looks for an expanded mutation in the FMR1 gene. Yes there is a genetic test that is done. There are four different results that you may have from the fragile X test: negative, intermediate, premutation and full mutation.
This show where the X chromosome is impacted.
There is no single treatment for Fragile X syndrome, but there are treatments that help minimize the symptoms of the condition. People with Fragile X who get the right help, education, and medication have the best chance of using all of their capabilities and skills.
Yes this disorder is heritable. Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. Yes this can be passed onto future generations.
This image shows how this disorder is passed on to different generations.