Jump Main Menu. Go directly to the main content

Sección de idiomas


Fin de la sección de idiomas

Access / Registration

Sección de utilidades

Fin de la sección de utilidades

Secondary menu End of secondary menu

Research projects

Start of main content

Characterisation and study of the implications of copy number variations in patients with X chromosome-related mental retardation

14th national competition for scientific and technical research

Rare diseases

Senior Researcher : Montserrat Milà Recasens

Research Centre or Institution : Fundació Clínic per a la Recerca Biomèdica. Hospital Clínic. Barcelona


The study of mental retardation is one of the most complex fields of human genetics due to its very high heterogeneity, and, although it affects between 1% and 3% of the general population, there is a scarce number of individuals with the same causation, which significantly hinders genetic studies.

On the other hand, genetic foundations are enormously complex and are, in turn, influenced by different environmental causes. In recent years, the application of high-resolution technologies has enabled the identification of genetic alterations due to DNA copy number variations (CNVs). This has made it possible to identify microdeletions and microduplications as the cause of mental retardation. On the other hand, CNVs have been described which do not seem to be associated with clinical manifestations and the meaning of which is currently unknown.

In this study, we aim to characterise and compare the frequency and distribution of X chromosome CNVs in patients with X-related mental retardation in a control group. The identification and characterisation of these CNVs will make it possible to identify new causes of mental retardation and to carry out future comparative studies on the control group and other groups of patients affected by different genetic diseases.

  • Activities related
  • Projects related
  • News related
  • Publications related

see all

End of main content