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: An unexpected finding in a child with neurological problems: mosaic ring chromosome 18.
    Author: Koç A, Kan D, Karaer K, Ergün MA, Karaoğuz MY, Gücüyener K, Hinreiner S, Liehr T, Perçin EF.
    Journal: Eur J Pediatr; 2008 Jun; 167(6):655-9. PubMed ID: 17668239.
    Abstract:
    Major neurological disorders may accompany rare chromosomal abnormalities. As an example of this rare condition, we present a case with microcephaly, mental retardation, developmental delay, hyperactivity, stereotypic movements, seizures and dysmorphic facial appearance in whom a mosaic ring chromosome 18 was found [45,XX,-18/46,XX,r(18)/46,XX,dicr(18)]. Although ring chromosome 18 phenotype has been known for a long time, this is the third reported patient with a dicentric ring chromosome 18 mosaicism. The presented case will contribute to the identification of the genotype-phenotype correlation in chromosome 18 anomalies.
    [Abstract] [Full Text] [Related] [New Search]