Characterization of a ring chromossome 22 by molecular cytogenetics

Abstract

Objectives: To characterize a ring chromosome 22 by means ofmolecular cytogenetics in a girl with retarded neuropsychomotordevelopment and dysmorphic features. A study carried out usingfluorescent in situ hybridization (FISH) with commercially availableprobes. The ring chromosome 22 was identified as r(22) (p11q13.3)and did not show any significant loss of genetic material. Theresults confirm the relevance of molecular cytogenetic studies toclarify diagnosis of patients with developmental delay andunspecific dysmorphic features.

Keywords

• Chromosome aberrations
• In situ hybridization
• fluorescence
• Chromosomes
• human
• pair 22
• Ring chromosomes
• Mental retardation