Chromosome 22q12.2 deletions reveal loss of MN1 in six patients with facial dysmorphism and/or cleft palate and/or abnormal cranium. Schema of the deletions on chromosome 22q12.2 in the eight patients described in the text and Table 1. Black bars depict the six patients with abnormal cranium and/or facial dysmorphism, and/or cleft palate. pX and TC were too young to determine whether they manifest clinical NF2. Gray bars depict the two patients without these abnormalities but with NF2. Dashed black line indicates the approximated proximal deletion in patient p41. Genes: NF2-purple, TTC28-green, PITPNB-orange, MN1-blue. Translucent vertical bars align the location of the deleted genes in relation to the chromosomal deletion found in each patient.
Davidson et al. BMC Medical Genetics 2012 13:19 doi:10.1186/1471-2350-13-19