Ring chromosome 2 in a child with growth failure and few congenital abnormalities

Am J Med Genet. 1980;7(3):383-9. doi: 10.1002/ajmg.1320070321.


A ring chromosome 2 mosaic [46,XX/46,XX,r(2)(p25q37)] was found in a newborn female with severe intrauterine growth retardation (IUGR), postnatal growth failure, and a few minor abnormalities. Psychomotor development has been normal to 19 months old. A ring chromosome 2 is present in 77.8% of the nuclei examined and is not found in the parents or a sibling. G- and R-banding reveal the break points to be p25q37. The presence of a normal cell line indicates that the chromosome abnormality arose after conception.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes / ultrastructure
  • Chromosomes, Human, 1-3*
  • Female
  • Growth Disorders / genetics*
  • Humans
  • Infant
  • Karyotyping
  • Mosaicism*