Chromosome 7q22-q31 duplication: report of a new case and review

Am J Med Genet. 2000 Nov 13;95(2):164-8.


We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosome Banding
  • Chromosome Painting
  • Chromosomes, Human, Pair 7*
  • Facies
  • Female
  • Gene Duplication*
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Hirsutism / diagnosis
  • Hirsutism / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Karyotyping
  • Microsatellite Repeats
  • Nucleic Acid Hybridization
  • Phenotype
  • Syndrome