"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes

Genet Couns. 2005;16(1):65-70.

Abstract

"Ring syndrome" is described as those cases with complete ring chromosomes showing, independently of the chromosome involved, severe growth failure, minor dysmorphic features, and mild-to-moderate mental retardation, without major malformations. We present a girl with ring 2 chromosome, exhibiting severe growth failure, minor dysmorphic features, spontaneously closed ventricular septum defect, and normal development. G-banding chromosome analysis and fluorescence in situ hybridization (FISH) analysis using chromosome-specific subtelomeric probes (2ptel, 2qtel) demonstrated the major karyotype as 46,XX,r(2)(p25.3q37.3).ish r(2)(2ptel+,2qtel+). We review the cases with "ring syndrome" confirmed by FISH using chromosome-specific subtelomeric probes, suggesting that this method might be useful to predict developmental prognosis in a case with an apparently complete ring chromosome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 2 / genetics*
  • DNA Probes / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Intellectual Disability / genetics
  • Karyotyping
  • Ring Chromosomes*
  • Telomere-Binding Proteins / genetics*

Substances

  • DNA Probes
  • Telomere-Binding Proteins