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. , ...Daha Fazla

EUROPEAN JOURNAL OF PEDIATRICS, cilt.167, sa.6, ss.655-659, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 167 Konu: 6
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1007/s00431-007-0568-y
  • Sayfa Sayıları: ss.655-659


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.