Three new cases with a supernumerary ring chromosome 1

Clin Dysmorphol. 2005 Oct;14(4):169-175.


We report on three cases with a cytogenetically identical ring chromosome containing euchromatin from the long arm of chromosome 1 (r[1][::p11.1-->q21.1::]). Two cases were newborn males (Cases 1 and 2) and the third one was prenatally identified as female (Case 3). Mosaicism was present in all three cases in different degrees, i.e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 1 / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Male
  • Ring Chromosomes*