Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

Clin Genet. 2002 Nov;62(5):415-7. doi: 10.1034/j.1399-0004.2002.620511.x.


Ring chromosome 7 is an unusual chromosome anomaly. Here we describe a patient with ring chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'ring syndrome'. This report helps to further delineate the clinical manifestations of 'ring syndrome' and to distinguish the phenotypic consequences of the presence of a ring chromosome 7 from the phenotypic consequences of terminal chromosome 7 submicroscopic deletions.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 7*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Karyotyping
  • Male
  • Ring Chromosomes*
  • Syndrome
  • Telomere*

Associated data

  • OMIM/180186