Partial trisomy of chromosome 6q: an interstitial duplication of the long arm

Am J Med Genet. 1998 Nov 2;80(2):133-5.


We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a "carp" mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is of chromosome 6 origin. This further delineates the dup(6q) syndrome and the manifestations due to the specific duplicated chromosomal region involved.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Child, Preschool
  • Chromosomes, Human, Pair 6*
  • Developmental Disabilities / genetics
  • Diabetes Mellitus, Type 1 / genetics
  • Female
  • Hernia, Umbilical / genetics
  • Humans
  • In Situ Hybridization, Fluorescence
  • Trisomy*