Further peer review failures

Although peer review has been used to maintain the quality of published research, it can be a “seriously flawed” process1 and might result in the publication of papers with errors. I refer here to the report2 of a de novo (2;16)(q36.3;p13.3) translocation that is associated with Rubinstein-Taybi syndrome (RTS). This report was published in Clinics and contains a cytogenetic mistake in the depicted karyotype. Although the translocation is correct (2;16), the chromosome 2 breakpoint is juxtaposed to the centromere and not at 2q36.3. Thus, the telocentric der (2) is composed of the whole 2q (including the centromere) and is presumably capped with the 16p telomere whereas the whole 2p is attached to 16p13.3. Therefore, the correct karyotype should be written as 46,XX,t(2;16)(p11.2;p13.3)dn. In addition, the assertion by Torres et al.2 that their “RTS patient is the third reported case with a de novo t(2;16)(q36.3;p13.3)” is groundless because only one RTS patient with this translocation has been reported.3 In a subsequent paper, Torres et al.4 have repeated the same cytogenetic error. These remarks further stress that even serious mistakes may be unnoticed during the peer and editorial review process.