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: Intragenic breakpoints localized by array CGH in a t(2;6) familial translocation.
    Author: Bernheim A, Toujani S, Guillaud-Bataille M, Richon C, Waxin H, Dessen P, Berger R.
    Journal: Cytogenet Genome Res; 2007; 119(3-4):185-90. PubMed ID: 18253027.
    Abstract:
    A 244K genome-wide array based comparative genomic hybridization study was carried out in a familial translocation t(2;6)(p25;p21) balanced in the mother and unbalanced in her daughter. In the past, this translocation has allowed us to localize the HLA multigene cluster to chromosome 6. With microarray technology, confirmation of the chromosome localization of the HLA system was easily obtained, showing that such approach may be applied to the breakpoint localizations of other familial structural changes when they are unbalanced. The disruption of genes at the translocation breakpoints that did not have any phenotypic consequences in the parent will allow the generation of a map of 'haplotolerant genes'. In addition, many genomic variants were detected with this technology, enlarging the possibility of analyzing their possible contribution to phenotypic diversity.
    [Abstract] [Full Text] [Related] [New Search]