Trisomy 6q syndrome: a case with a > 6q23 tandem duplication.

: In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of > showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other > partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q trisomy.