Mohd Fadly et al. Journal of Medical Case Reports 2012, 6:30 http://www.jmedicalcasereports.com/content/6/1/30 Page 5 of 7 Figure 3 The MLPA profile demonstrating a de novo hemizygous deletion of exons 6 to 31 of the CREBBP gene as indicated by the arrow. contiguous gene deletions up to 3 Mb, all of which included Crebbp, Trap1 and deoxyribonuclease 1 gene (DNase1), will result in severe RSTS. A case described by Wójcik et al. [13] showed an approximate 520.7 kb microdeletion on 16 p13.3, involving Crebbp, the Adenyl cyclase 9 and Sarcalumenin genes, in a two-year-old female with RSTS. Besides most of the typical features of RSTS, their patient had corpus callosum dysgenesis and a Chiari type I malformation which required neuro- surgical decompression. These evidences demonstrated that microdeletion involving neighboring genes to Crebbp gene might be responsible for the additional fea- tures in RSTS. In addition, our finding merits further interest because no cases of microdeletion 16 p13.3 with contiguous gene deletion, comprising Crebbp and Trap1 genes, have been described in typical RSTS patients. It is noteworthy that as our patient grew older her clinical features became increasingly more consistent with RSTS. Most of the typical RSTS features as described by Hennekam [3] were observed. These