Developmental abnormalities associated with a ring chromosome 6

J Med Genet. 1973 Sep;10(3):299-303. doi: 10.1136/jmg.10.3.299.

Abstract

A clinical and cytogenetic report is made of a patient with microcephaly, peculiar facies, and retardation of physical and mental development, who possesses a karyotype containing a ring chromosome No. 6 identified by Q-staining with quinacrine mustard. This is the first report of a ring autosome in the C group to be identified. Comparison with other patients reported as having C-group autosomal rings failed to reveal many common phenotypic characteristics.

MeSH terms

  • Age Factors
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, 6-12 and X*
  • Dermatoglyphics
  • Face
  • Female
  • Fibroblasts
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics*
  • Karyotyping
  • Leukocytes
  • Microcephaly / genetics*
  • Pregnancy