SciELO - Scientific Electronic Library Online

vol.53 issue2Glycated Hemoglobin Analysis of Diabetic Patients Diagnosed from 2006 to 2008 at the National Children’s HospitalTabacosis, a change in therminology for an increase in consciousness author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links

  • Have no similar articlesSimilars in SciELO


Acta Médica Costarricense

On-line version ISSN 0001-6002Print version ISSN 0001-6012


VINDAS-SMITH, Rebeca; CUENCA-BERGER, Patricia; BRENES-PINO, Fernando  and  CASTRO-VOLIO, Isabel. Immunohistochemical Screening for Fragile X Syndrome in a Population of Costa Rican Children and Adolescents. Acta méd. costarric [online]. 2011, vol.53, n.2, pp.93-98. ISSN 0001-6002.

Aim: Fragile X Syndrome (FXS) is the most common form of inherited mental retardation. Since it has no treatment, the screening of selected populations by FMRP detection is one of the most efficient preventive methods of the disorder. Methods: The population consisted of 118 students attending special schools or referred by medical consultation. The percentage of FMRP expression was determined in hair roots and lymphocytes. All subjects who screen positive or borderline, were submitted to the molecular tests to determine the number of CGG repeats. Results: We found no carriers of the full mutation by immunohistochemistry or molecular techniques. Conclusion: The immunohistochemistry detection of FMRP is a low cost, reliable, fast, and simple technique, ideal for the screening of large populations.

Keywords : Costa Rica; immunohistochemistry; mental retardation; fragile X syndrome.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License