My two year old son was born prematurely and now has developemental delays,speech delays,and hearing problems.when he was younger he had trouble sitting,crawling and walking.The Dr. says his delays are not caused from prematurity, but they never mentioned the fragile x syndrome.I read about it online and my son has all the symptoms. Fragile X is very well known; searching PubMed, there are over 3,800 articles published about the disorder. Fragile X has been linked to the number of CGG repeats near the gene FMR1 on the X chromosome. It's been suggested that there is a threshold number of repeats that the FMR1 gene can handle in that area; below the threshold, people are phenotypically normal, while above that threshold, you get the fragile X phenotype.
The symptoms of fragile X can be very heterogeneous; some percentage of patients don't get particular symptoms, while others can show all or very few. This makes it difficult for doctors to diagnose.
There is a National Fragile X Foundation that has a lot of information on genetic testing, how it works, and how to prepare. Your normal doctor can order the DNA test. If you can, either find a genetic counselor or have your normal doctor refer you to one; these people usually have a master's degree or PhD in genetics, so they know how to interpret the results of your test, and they are trained in how to explain the results and advise you on what your next move should be. If he has all the symptoms you should take him to a genetic specialist. The only way to know for sure is to get a karyotype. My genetics book says Fragile X is seen in 1 in 6000 males of northern european heritage. |
