A small supernumerary marker chromosome X identified by in situ hybridization

Clin Genet. 1995 May;47(5):270-3. doi: 10.1111/j.1399-0004.1995.tb04310.x.

Abstract

Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome. To our knowledge, this is the first reported case of a female patient mosaic for a supernumerary small marker chromosome derived from X, and hence mosaic for trisomy of the pericentric region of the X chromosome.

Publication types

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

MeSH terms

  • Child
  • Chromosome Aberrations*
  • Chromosome Disorders*
  • DNA Probes
  • DNA, Satellite
  • Face / abnormalities
  • Female
  • Genetic Markers*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics
  • Karyotyping
  • Speech Disorders / genetics
  • X Chromosome*

Substances

  • DNA Probes
  • DNA, Satellite
  • Genetic Markers