An unexpected finding in a child with neurological problems: mosaic ring chromosome 18


Koc A., Kan D., Karaer K., ERGÜN M. A. , YİRMİBEŞ KARAOĞUZ M. , GÜCÜYENER K. , ...More

EUROPEAN JOURNAL OF PEDIATRICS, vol.167, no.6, pp.655-659, 2008 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 167 Issue: 6
  • Publication Date: 2008
  • Doi Number: 10.1007/s00431-007-0568-y
  • Title of Journal : EUROPEAN JOURNAL OF PEDIATRICS
  • Page Numbers: pp.655-659

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.