Deletion of 9q22: a new observation suggesting a specific phenotype

Ann Genet. 1993;36(3):167-70.

Abstract

The observation of a mentally retarded 15 months old male infant with a deletion of 9q22q2207 is compared with similar cases published between 1973 and 1991. Facial dysmorphism and abnormalities of the larynx, brain and heart suggest a particular phenotype. The critical region may be at 9q22.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9*
  • Facial Asymmetry / congenital
  • Facial Asymmetry / genetics*
  • Family
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Karyotyping
  • Male
  • Phenotype