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

Eur J Pediatr. 2008 Jun;167(6):655-9. doi: 10.1007/s00431-007-0568-y. Epub 2007 Aug 1.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child
  • Chromosome Aberrations
  • Chromosome Deletion
  • Chromosomes, Human, Pair 18*
  • Developmental Disabilities / genetics*
  • Female
  • Genotype
  • Humans
  • Intellectual Disability / genetics*
  • Karyotyping
  • Microcephaly / genetics*
  • Mosaicism
  • Phenotype
  • Ring Chromosomes*
  • Trisomy
  • Turkey