Patient No. | Sex | CA* (yr) | BA* (yr) | Predicted LLD†(mm) | Standardized predicted LLD‡ (%) | Epigenotype | MS-MLPA for 11p15 | Bisulfite pyrosequencing | ||
---|---|---|---|---|---|---|---|---|---|---|
DMR1§ (SD) | DMR2§ (SD) | Methylation difference∥ (SD) | ||||||||
Hemihyperplasia | ||||||||||
1 | F | 10.8 | 11 | 25 | 1.8 | N | N | − 0.72 (B) | 0.74 (B) | 0 |
2 | F | 11 | 11 | 33 | 2.2 | N | N | 0.56 (F) | 1.82 (F) | 2.38 |
3 | M | 12.8 | 12.8 | 51 | 3.1 | DMR1-GOM | DMR1-GOM | 2.63 (F) | − 0.68 (F) | 3.31 |
4 | M | 14.5 | 15 | 26 | 1.5 | N | N | − 1.01 (F) | 1.43 (F) | 2.44 |
5 | M | 13 | 13.3 | 20 | 1.1 | N | N | − 0.77 (B) | − 1.67 (B) | 0.02 |
6 | M | 6.9 | 6.1 | 112 | 8.7 | pUPD 11p15 | DMR1-GOM & DMR2-LOM | 3.55 (F) | − 6.72 (F) | 10.27 |
7 | M | 14 | 14 | 20 | 1.2 | DMR2-LOM | DMR2-LOM | 0.39 (B) | − 5.59 (B) | 3.1 |
8 | M | 8.4 | 8 | 43 | 3.2 | N | N | 1.53 (S) | − 1.52 (S) | 0.71 |
9 | M | 14.4 | 14.2 | 40 | 2.5 | N | N | 0.08 (F) | − 1.51 (F) | 1.59 |
10 | M | 11.2 | 12 | 30 | 2 | N | N | − 0.33 (S) | − 0.78 (S) | 0.41 |
11 | M | 12.4 | 11.9 | 34 | 2.3 | N | N | − 1.39 (S) | − 0.04 (S) | 1.33 |
12 | M | 10.8 | 10 | 40 | 2.8 | N | N | 0.94 (S) | − 0.81 (S) | 0.86 |
13 | M | 11 | 10.9 | 22 | 1.5 | N | N | 0.31 (M) | − 0.74 (M) | 0.36 |
14 | M | 14.4 | 15 | 24 | 1.3 | DMR1-LOM | DMR1-LOM | − 2.12 (B) | − 0.9 (B) | 0.4 |
15 | F | 11.1 | 12 | 32 | 2.2 | DMR1-LOM | DMR1-LOM | − 2.24 (F) | 1.29 (F) | 3.53 |
16 | M | 12.1 | 11.8 | 38 | 2.5 | N | N | − 1.46 (F) | 1.69 (F) | 3.15 |
17 | M | 13.6 | 13.4 | 20 | 1.1 | N | N | − 0.72 (B) | 1.54 (B) | 0.97 |
18 | F | 12 | 12 | 26 | 1.6 | N | N | − 1.93 (B) | 1.91 (B) | 2.15 |
19 | F | 12.1 | 12 | 25 | 1.6 | N | N | − 0.68 (B) | 1.58 (B) | 1.98 |
20 | F | 10.6 | 11.3 | 35 | 2.4 | N | N | 1.32 (M) | − 1.62 (M) | 0.95 |
21 | F | 12 | 11 | 25 | 1.6 | N | N | − 0.89 (B) | 0.89 (B) | 0.09 |
22 | F | 11.5 | 11 | 26 | 1.7 | N | N | −1.12 (S) | 1.17 (S) | 0.59 |
23 | F | 7.9 | 7.9 | 61 | 4.8 | DMR2-LOM | DMR2-LOM | − 1.65 (B) | − 14.72 (B) | 7.77 |
Hemihypoplasia | ||||||||||
1 | M | 12 | 12 | 43 | 2.9 | N | N | 0.97 (M) | − 0.91 (M) | 0.99 |
2 | F | 10.1 | 12.1 | 57 | 4.1 | mUPD 11p15 | N | − 2.65 (S) | 2.71 (S) | 3.27 |
3 | M | 11.7 | 11.8 | 44 | 3 | DMR2-LOM | DMR2-LOM | − 0.02 (B) | − 3.25 (B) | 3.08 |
4 | M | 12.2 | 12 | 26 | 1.7 | N | N | 0.94 (M) | − 1.47 (M) | 0.67 |
5 | F | 11.4 | 12 | 54 | 3.5 | DMR2-LOM | DMR2-LOM | 0.69 (F) | − 2.51 (F) | 3.2 |
6 | F | 11.2 | 11 | 20 | 1.4 | DMR1-LOM | DMR1-LOM | − 3.96 (B) | 0.18 (B) | 2.31 |
7 | M | 12.3 | 12.3 | 37 | 2.5 | N | N | − 1.65 (S) | 1.6 (S) | 3.08 |