Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature.

A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment. Copyright 2001 Wiley-Liss, Inc.