These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Fragile X syndrome a case report of a family.
    Author: Chatterjee C, Guha D, Das S, Singh SK, Dasgupta U, Saha S, Bannerjee D.
    Journal: Indian J Pathol Microbiol; 2001 Oct; 44(4):499-502. PubMed ID: 12035381.
    Abstract:
    Fragile X syndrome is the most common of the inherited disorders causing mental retardation. This disorder results from an abnormal expansion in (CGG)n in repeat found in the coding sequence of the FMRI gene, located at Xq 27.3. Previously it was detected by Karyotyping. With the advent of Molecular Biology PCR, has become the best method in the diagnosis of this disorder. This is a case report of a family with this disorder detected by PCR.
    [Abstract] [Full Text] [Related] [New Search]