Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome

“…People with RSTS have an increased risk of developing benign and malignant tumors, including certain kinds of brain tumors and hematologic malignancies. The severity of these signs and symptoms vary among affected individuals ( 1 , 2 , 3 , 4 , 5 , 6 , 12 , 13 , 14 ). In the neonatal period, accompanying problems include respiratory and feeding difficulties, congenital heart defects, seizures and growth retardation.…”

Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome

“…Fifteen of our RTS patients had a normal karyotype at 450+ band resolution, except patient 2, who presented a de novo reciprocal translocation t(2;16) (q36.3; p13.3) (14).…”

Further peer review failures

“…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 peer review has been used to maintain the quality of published research, it can be a “seriously flawed” process 1 and might result in the publication of papers with errors. I refer here to the report 2 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.…”

“…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.…”