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: Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations.
    Author: Chudley AE, Pabello PD, McAlpine PJ, Nickel BE, Shokeir MH.
    Journal: Am J Med Genet; 1982 Jun; 12(2):219-25. PubMed ID: 7048927.
    Abstract:
    A young, mentally retarded man with seizures was discovered to have a ring chromosome 17. He had no major anomalies. The phenotype associated with r(17) probably is variable. The patient's deletion and genotype allowed us to reduce further the chromosome location of the acid alpha-glucosidase gene.
    [Abstract] [Full Text] [Related] [New Search]