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

Abstract

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.