Fragile X syndrome: what it is, symptoms and diagnosis
Fragile X syndrome is a genetic disease that occurs as a result of a mutation on the X chromosome, resulting in several repetitions of the CGG sequence, having a single X chromosome, children are more affected by this syndrome, showing more characteristic signs, such as elongated face, large and dangling ears, as well as behavioral traits similar to that of autism.This mutation can also occur in girls, but the signs and symptoms are much milder, since having two X chromosomes, the normal chromosome compensates for the defect of the other.
- Diagnosing fragile X syndrome is difficult because most symptoms are not specific.
- But if there is a family history.
- It is important to provide genetic counseling to check the chances of the syndrome occurring.
- Understand what genetic counseling is and how it’s done.
Fragile X syndrome is highly characterized by behavioral disorders and intellectual disability, especially in children with learning and speech issues.In addition, the characteristic symptoms of fragile X syndrome are:
Most of the characteristics associated with the syndrome are not noticed until adolescence.In children, it is common in adolescence to have an enlarged testicle, while women may have fertility problems and ovarian insufficiency.
O diagnostico da síndrome do X frágil pode ser feito por testes moleculares e cromossômicos, para identificar a mutação, a quantidade de sequências CGG e as características do cromossomo. Esses exames podem ser feitos com amostra de sangue, saliva, fio de cabelo ou líquido amniótico.
Treatment of Fragile X syndrome is through behavioral therapy, physical therapy, and, if necessary, surgery for physical changes.
People with a history of fragile X syndrome in the family should consult genetic counseling to determine the likelihood of having children with the disease.Men have the XY cariotype, and if they are affected, they can only pass it on to their daughters, never to their children since the gene that males receive is Y, and it has no alteration related to the disease.