Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker

Am J Med Genet. 2000 May 1;92(1):69-76.


We observed an analphoid marker chromosome stable through cell division in a 16-year-old girl with developmental delay, short stature, limb contractures, and ovaries containing multiple cysts. She also developed myasthenia gravis at 15 years. The marker chromosome, present in 75% of metaphases (and in 90% of transformed lymphoblastoid cells), was C-band negative, and had no pan alpha-satellite sequences detectable by fluorescence in situ hybridization (FISH). The 8q origin of the marker was determined by use of subtelomeric probes and was confirmed by chromosome 8 painting probes. The marker was shown to be an inversion duplication of 8q when subtelomeric, telomeric, and c-myc FISH probes hybridized to both ends of the marker. The karyotype was 47,XX,+inv dup(8)(qter--> q23.3::q23.3-->[neocen]-->qter), resulting in tetrasomy for 8q23.3qter. The parents had normal karyotypes. Centromeric proteins CENP-C and CENP-E were present, but alpha associated centromere protein CENP-B was absent at a position defining a neocentromere.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Aneuploidy*
  • Autoantigens*
  • Centromere / genetics
  • Centromere Protein B
  • Chromosomal Proteins, Non-Histone / genetics
  • Chromosome Banding
  • Chromosome Inversion
  • Chromosomes, Human, Pair 8 / genetics*
  • Contracture
  • DNA, Satellite
  • DNA-Binding Proteins*
  • Extremities
  • Female
  • Gene Duplication
  • Genetic Markers
  • Growth Disorders
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Mosaicism
  • Ovary / pathology


  • Autoantigens
  • CENPB protein, human
  • Centromere Protein B
  • Chromosomal Proteins, Non-Histone
  • DNA, Satellite
  • DNA-Binding Proteins
  • Genetic Markers
  • centromere protein C
  • centromere protein E