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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 167 Issue: 6
  • Publication Date: 2008
  • Doi Number: 10.1007/s00431-007-0568-y
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.655-659
  • Keywords: ring chromosome 18, mosaicism, 18q deletion syndrome, 18p deletion syndrome, microcephaly, mental retardation, Trisomy 18, INDIVIDUALS, KARYOTYPE, PATIENT, MOTHER, ORIGIN, GIRL
  • Dokuz Eylül University Affiliated: No


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.