A small de novo 16q24.1 duplication in a woman with severe clinical features

► We report a de novo 16q24.1 interstitial duplication in a woman with a severe phenotype. ► The involvement of the 16q24 band or 16q24-qter region cause similar characteristics. ► The pure trisomy 16q24.1 may contain important genes associated with some features. ► Our data suggest a possible role of COX4I1 in the paucity in adipose tissue. ► MIR1910 gene may be involved in brain development abnormalities or psychomotor delay.