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. 2015 Jun 15;10(6):e0129270. doi: 10.1371/journal.pone.0129270

Table 1. Summary of cytogenetic and clinical findings in cases with overlapping events at 19p13.12.

Case ID Event Type Coordinates (Hg19) Size (Mb) Inheritance Gender Head Size Developmental Status
DECIPHER 257523 Gain 12.84–15.93 3.09 de novo M Micro Intellectual Disability
Gallant et al., 2011 Loss 13.90–16.52 2.62 de novo F Micro Unavailable
DECIPHER 285763 Loss 13.93–16.32 2.39 de novo F Micro Intellectual Disability
DECIPHER 283124 Loss 13.93–16.32 2.39 de novo F Micro Intellectual Disability
DECIPHER 284366 Gain 13.99–24.30 10.31 Unknown F Macro Global Developmental Delay
Engels et al., 2007/Bonaglia et al. 2010 Loss 14.10–16.67 2.57 Unknown F Micro Intellectual Disability
Bonaglia et al., 2010 Loss 14.27–16.19 1.92 Mat. Inherited M 5–10 centile Intellectual Disability
Van der Aa et al., 2010/DECIPHER 255743 Loss 14.38–15.49 1.11 de novo M Micro at birth Intellectual Disability
DECIPHER 249355 Loss 14.66–15.66 1.00 Unknown F Micro Unavailable
DECIPHER 249428 Gain 15.05–16.03 0.98 Inherited-parental origin unknown M Macro Intellectual Disability
Sanders et al., 2011 Gain 15.05–15.89 0.84 de novo M Macro Unavailable
Tg64.100 (Carrier Mother) Gain 15.05–15.81 0.76 Unknown F Macro Special Education as Child
Tg64.002 (Carrier Sib) Gain 15.05–15.81 0.76 Mat. Inherited F Macro Typically Developing
Tg64.001 (index) Gain 15.05–15.81 0.76 Mat. Inherited M Macro Intellectual Disability
DECIPHER 265764 Loss 15.05–16.24 1.19 de novo M Normal Intellectual Disability
Jelsig et al., 2012 Loss 15.18–16.62 1.44 de novo M Micro Intellectual Disability
DECIPHER 250827 Gain 15.18–16.46 1.28 de novo F Macro Intellectual Disability
DECIPHER 255839 Loss 15.19–16.62 1.43 de novo M Micro Intellectual Disability
Kosaki et al., 2011 Loss 15.44–16.20 0.76 de novo F 10th centile Mild Developmental Delay