PMC5580054_01
Current appearance of a 37-year-old woman with a de novo 8.6 megabase deletion of 2q32.2q33.1 who presented with the characteristic phenotype and behavioural problems, but who also experienced prominent secondary cognitive decline. Characteristic features of 2q32q33 microdeletion syndrome noted in this patient are the sparse hair, thin, pale skin and craniofacial dysmorphism (including long and asymmetric face, short and flat philtrum, pointed chin, oligodontia, and periorbital dermoid cyst). The colour version of this figure is available at: http://imr.sagepub.com.
10.1177_0300060515595651-fig1.jpg
PMC5580054_01_10.1177_0300060515595651-fig1.jpg
fig1-0300060515595651
The patient was of normal height and weight; she had sparse hair, thin, pale skin, craniofacial dysmorphism (a long and asymmetric face, short and flat philtrum, and pointed chin), oligodontia and a left periorbital dermoid cyst (Figure 1). 
A schematic presentation of deletions in patients with reported 2q32q33 microdeletion syndrome and behavioural problems, including those of the present case (labelled red). Size and positions of deletions with implicated genes are presented in the University of California, Santa Cruz Genome Browser. The colour version of this figure is available at: http://imr.sagepub.com.
10.1177_0300060515595651-fig2.jpg
PMC5580054_01_10.1177_0300060515595651-fig2.jpg
fig2-0300060515595651
TMEFF2, PGAP1 and SATB2 genes. The chromosomal position of the deletion in the present case is labelled red on Figure 2.