Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: unusual chromosome 9 variant

Am J Med Genet. 2000 Mar 20;91(3):192-7.

Abstract

We report on a 31-year-old mentally retarded woman with minor facial anomalies and a heteromorphic chromosome 9 with tandem duplication of the 9p11-q13 pericentromeric region. To the best of our knowledge, this is the first report of tandem duplication of this region. An identical chromosome 9 morphology was found in the healthy and phenotypically normal sister of the proposita. The usefulness of double-color FISH techniques and the presumed mechanism accounting for the origin of the chromosomal anomaly and for the phenotypic discordance observed between the two sisters are discussed.

MeSH terms

  • Adult
  • Centromere / pathology*
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosomes, Human, Pair 9*
  • Craniofacial Abnormalities / complications
  • Craniofacial Abnormalities / genetics
  • Eclampsia / pathology
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / complications
  • Intellectual Disability / genetics
  • Nuclear Family
  • Pregnancy