Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

KEY CLINICAL MEASSAGE:Patients with rare deletions in 16q12 and a duplication of 17p, both interstitial and de novo. Only seven cases have been described with these deletions and none of them presented other chromosomal abnormalities. The proband showed a complex phenotype with features found in patients with dup17p11.2 syndrome, deletions in 16q12.