Supernumerary small ring chromosome

J Med Genet. 1977 Dec;14(6):447-51. doi: 10.1136/jmg.14.6.447.

Abstract

A supernumerary small ring chromosome was found in 30% of cultured peripheral leucocytes and 50% of skin fibroblasts in a 6-year-old boy with mild mental retardation and midline cleft palate. The extra chromosome appeared to carry a densely staining region on Giemsa banding. The banding patterns of the remaining 46 chromosomes were normal. C banding indicated that the ring chromosome contained mainly centromeric constitutive heterochromatin. Chromosome analysis of both parents showed normal karyotypes by both conventional and banding techniques; thus the origin of the ring chromosome could not be determined.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Child, Preschool
  • Cleft Palate / genetics*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Mosaicism*