[Phenotype of a ring-chromosome 6 carrier. Clinical and cytogenetic study]

J Genet Hum. 1980 Dec;28(4):95-104.
[Article in French]

Abstract

A ring 6 chromosome was detected in a 18 months old boy. The patient was a dwarf with psychomotor retardation, morphological anomalies i.e. microcephaly, bird head shaped facies with large ears, arched palate and micrognathia. A survey of 9 others cases collected in the medical literature permit to propose a specific phenotype for this chromosomal abnormality.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, 6-12 and X*
  • Dermatoglyphics
  • Dwarfism / genetics
  • Humans
  • Infant
  • Male
  • Pedigree
  • Phenotype
  • Psychomotor Disorders / genetics