Identification of a supernumerary marker derived from chromosome 17 using FISH

Am J Med Genet. 1995 Oct 23;59(1):33-5. doi: 10.1002/ajmg.1320590107.

Abstract

We report on a 15-year-old girl with mental retardation, obesity, short stature and minor anomalies. She had 47 chromosomes with a minute extra ring which was identified by FISH to be derived from chromosome 17.

Publication types

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

MeSH terms

  • Adolescent
  • Chromosomes, Human, Pair 17*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Karyotyping
  • Obesity / genetics*
  • Syndrome
  • Trisomy