A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder.

摘要

With great interest, we read a Clinical Report by Pramparo et al. [2008] published in this journal, in which a girl with a 7-Mb proximal interstitial duplication at 22ql3.1-13.2 was described. The patient presented with dysmorphic features and hippocampal malformation associated with bipolar disorder [Pramparo et al., 2008]. Recently, we encountered a 12-year-old Japanese boy with a 6-Mb interstitial duplication at 22ql3.lql3.31, which overlapped with the interstitial duplication reported by Pramparo et al. [2008].