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: Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.
    Author: Shimojima K, Okamoto N, Goel H, Ondo Y, Yamamoto T.
    Journal: Eur J Med Genet; 2017 Dec; 60(12):650-654. PubMed ID: 28899818.
    Abstract:
    Because several genes responsible for epileptic encephalopathy are located on the 9q33q34 region, patients with chromosomal deletions of this region often show intractable epilepsy and neurodevelopmental disability. Contrary to these findings, chromosomal duplications of this region have never been reported previously. We identified a first case of 9q33q34 microduplications in siblings associated with developmental disorders and macrocephaly. Their mother was a mosaic carrier of this duplication. Duplicated regions involved STXBP1; the gene related to epileptic encephalopathy. Neurological features including developmental delay and macrocephaly observed in the present siblings may be derived from the extra-copy of STXBP1.
    [Abstract] [Full Text] [Related] [New Search]