MSX2 COPY number increase and craniosynostosis Pelegrino KO et al. CLINICS 2012;67(8):981-985 Table 1 - Clones that exhibited copy number variation detected through aCGH screening of the patient’s genome. Clones RP11-203P12 RP11-603O17 RP11-606P24 RP11-10J21 RP11-153P4 RP11-311J21 Status of alteration Cytogenetic location Genomic coordinates (GRCh36/ hg18) Genes present in the region Loss Gain Gain Loss Loss Loss 4q22.1 5q35.2 5q35.2 8q24.3 9q34.2 9q34.3 4:88,282,368- 88,336,595 5:173,984,926- 174,145,340 5:174,718,444- 174,907,513 8:142,215,092- 142,412,727 9:135,531,566- 135,710,693 9:136,982,786- 137,166,802 KLHL8 MSX2 DRD1, SFXN1 DENND3, SLC45A4 SARDH, VAV2 OLFM1 Figure 1 - A spectral image of chromosome 5 from the patient revealing a gain in 5q35.2, which was detected by aCGH. 982