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: [Study of the duplication of 17p11.2-12 chromosome region in the patients with hereditary motor and sensory neuropathy type 1A].
    Author: Hryshchenko NV, Bychkova AM, Pichkur NA, Skyban HV, Dmytrenko VV, Livshyts' LA.
    Journal: Tsitol Genet; 2003; 37(6):55-9. PubMed ID: 15067947.
    Abstract:
    Charcot-Marie-Tooth neuropathy (CMT) is one of the most common hereditary disorders, affecting 1:2500 individuals. CMT is a heterogeneous group of disorders characterized by chronic peripheral motor and sensory neuropathy. We have performed the detection of 1.5 Mb CMT1A tandem duplication in 17p11.2-12 chromosome region for autosome-dominant CMT1 patients and their relatives using the analysis of two (CA)n polymorphic microsatellite loci: 17S921 and 17S1358 localised in the duplication region. CMT1A duplication was found in three of five autosome-dominant CMT1 families. It has been shown that CMT1A duplication analysis is important for early differential diagnosis of CMT including prenatal diagnosis and genetic consulting in high risk families.
    [Abstract] [Full Text] [Related] [New Search]