The fragile x syndrome: what it is, causes, symptoms and treatment

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Fragile X syndrome or Martin-Bell syndrome is a genetic disorder that manifests mainly through mental retardation and developmental problems. Its diagnosis consists of detecting the presence of the mutation in the FMR-1 gene, responsible for the appearance of this disease. This gene is located on the sexual chromosome X, which is severely affected by the presence of this mutation.

This syndrome is the most common form of moderate hereditary mental retardation that exists, behind Down syndrome.

Below you have an index with all the points that we will discuss in this article.

Index

Fragile X syndrome: what it is, causes, symptoms and treatment



Inheritance of Fragile X Syndrome

The inheritance of the mutation that causes this syndrome is of dominant type, that is to say, only that one of the two copies of the FMR-1 gene is mutated, we can, depending on the number of repetitions, develop the disease.

However, there is an additional peculiarity to this pathology, since its transmission is linked to the X chromosome. This expression is given by the fact that the mutated gene is located on the sexual chromosome X and, therefore, implies that its appearance and degree of affection is different in each sex, since men have a single X chromosome and women have 2.

Fragile X syndrome in males

Since men have only one X chromosome in their karyotype, if they have inherited the complete mutation, the disease will occur.

This means that this disease is mainly suffered by men and the symptoms they suffer are more severe than in the case of women.


preimplantation genetic diagnosis in Valencia(Spain)

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