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 |