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

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.

• Authors: Altuğ Koç, Derya Kan, Kadri Karaer, Mehmet A Ergün, Meral Yirmibeş Karaoğuz, Kivilcim Gücüyener, Sophie Hinreiner, Thomas Liehr, E Ferda Perçin
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 167 Issue 6 Pg. 655-9 (Jun 2008) ISSN: 0340-6199 [Print] Germany
• PMID: 17668239 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• 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