Mohd Fadly et al. Journal of Medical Case Reports 2012, 6:30 http://www.jmedicalcasereports.com/content/6/1/30 Page 3 of 7 A B Figure 1 Clinical features of our patient at the age of three years. Dysmorphic facial features include a prominent nasal bridge, hypertelorism and down-slanting palpebral fissures. Other features include (a) broad thumbs and fingers and (b) great toes. be de novo and hemizygous from exons 6 to 31, which corresponds to between 3, 717, 675 and 3, 772, 856 base pairs (Figure 3). This MLPA finding is consistent with the array-CGH result. In most cases, cytogenetic rearrangements at chromo- some 16 p13.3 or submicroscopic deletions within 16 p13 were found to be caused by heterozygous molecular mutations in Crebbp gene [4,5]. The Crebbp gene has