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: A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.
    Author: Vargas H, Beldia G, Korosh W, Sudhalter V, Iqbal A, Sanchez-Lacay JA, Velinov M.
    Journal: Eur J Med Genet; 2012 Oct; 55(10):573-6. PubMed ID: 22669037.
    Abstract:
    A 12 year-old girl presented with cognitive disability and dysmorphic features. Chromosome microarray analysis revealed a de novo, approximately 4.5 Mb terminal deletion of the short arm of chromosome 12 at 12p13.33 region: chr12:100712-4607067. At 13 years this patient developed psychotic manifestations and was admitted to a psychiatric department for treatment. She started hearing voices, talking to herself and laughing without reason. We have previously reported a male individual with psychotic manifestations and a larger (6.2 Mb) terminal deletion in the same chromosomal region. The present case along with previous reports, define a 2 Mb region on chromosome 12p, where a psychosis-associated gene may be located. Included in this psychosis-associated area are 18 OMIM listed genes.
    [Abstract] [Full Text] [Related] [New Search]