Table 1 Phenotypic spectrum of WAGR syndrome with 10 Mb or larger deletions
From: Sustained endocrine profiles of a girl with WAGR syndrome
No | Case ID | Age | Sex | Reference (Author, Year) | Cytoband | Size (Mb) | Genome Assembly | Start point | End point | Height | Body weight | Neurological Signsa |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F24a | 16 | F | Xu S, 2008 [4] | 11p12p15.1 | 23.0 | GRCh 35 (hg17) | 20,040,419 | 43,071,919 | NA | NA | ID, OCD |
2 | F8a | 11 | F | Xu S, 2008 [4] | 11p14p12.3 | 19.1 | GRCh 35 (hg17) | 25,086,501 | 44,212,278 | NA | NA | ID, OCD, ASD |
3 | NIH10 | 6 | M | Xu S, 2008 [4] | 11p11.2p14.1 | 18.2 | GRCh 35 (hg17) | 27,656,700 | 45,858,752 | NA | NA | DD |
4 | F17a | 36 | F | Xu S, 2008 [4] | 11p14p12.3 | 15.6 | GRCh 35 (hg17) | 25,086,501 | 40,651,423 | NA | NA | ID, ASD, ADHD, OCD, Anxiety |
5 | NIH3 | 4 | M | Xu S, 2008 [4] | 11p14p12.3 | 15.3 | GRCh 35 (hg17) | 24,202,909 | 39,529,029 | NA | NA | DD |
6 | F10a | 7 | F | Xu S, 2008 [4] | 11p11.2p13 | 14.9 | GRCh 35 (hg17) | 31,284,414 | 46,194,871 | NA | NA | ID, DD, OCD, Anxiety |
7 | F20a | 15 | M | Xu S, 2008 [4] | 11p14p12.3 | 14.6 | GRCh 35 (hg17) | 25,844,571 | 40,482,022 | NA | NA | ID, DD, ASD, ADHD, OCD, Anxiety |
8 | YS 013 | 5 | F | [This study] | 11p14.3p12 | 14.4 | GRCh37 (hg19) | 24,792,569 | 39,222,929 | 91.3 cm (−3.5 SD) | 12.45 kg (−2.2 SD) | DD, ASD, Hyperphagia |
9 | NIH9 | 7 | F | Xu S, 2008 [4] | 11p13p15.1 | 14.4 | GRCh 35 (hg17 | 20,759,560 | 35,124,532 | NA | NA | ID, ASD |
10 | F7a | 13 | F | Xu S, 2008 [4] | 11p14p12.3 | 14.3 | GRCh 35 (hg17 | 24,542,321 | 38,824,714 | NA | NA | ASD, DD, ADHD |
11 | NIH6 | 17 | M | Xu S, 2008 [4] | 11p14p12.2 | 14.2 | GRCh 35 (hg17 | 26,005,134 | 40,174,102 | NA | NA | ID, ASD, ADHD, Anxiety |
12 | NIH2 | 19 | M | Xu S, 2008 [4] | 11p13p15.1 | 13.5 | GRCh 35 (hg17 | 20,135,621 | 33,614,001 | NA | NA | ID, ASD |
13 | F3a | 26 | F | Xu S, 2008 [4] | 11p12p13 | 12.9 | GRCh 35 (hg17 | 31,284,414 | 44,212,278 | NA | NA | ID, DD, Seizure, Depression |
14 | F21a | 12 | F | Xu S, 2008 [4] | 11p14p12.3 | 12.5 | GRCh 35 (hg17) | 25,336,593 | 37,873,278 | NA | NA | ADHD, OCD, Anxiety |
15 | F14a | 12 | F | Xu S, 2008 [4] | 11p14p12.1 | 12.2 | GRCh 35 (hg17) | 28,001,853 | 40,239,548 | NA | NA | ID, ASD, OCD, Anxiety, ADHD |
16 | F1a | 11 | M | Xu S, 2008 [4] | 11p13p14.3 | 11.4 | GRCh 35 (hg17) | 24,848,855 | 36,266,146 | NA | NA | ID, ASD, Anxiety, OCD |
17 | NIH11 | 4 | M | Xu S, 2008 [4] | 11p14p12.2 | 10.7 | GRCh 35 (hg17) | 26,690,778 | 37,341,623 | NA | NA | ID, ASD |
18 | F23a | 16 | M | Xu S, 2008 [4] | 11p14p12.1 | 10.6 | GRCh 35 (hg17) | 27,675,634 | 38,235,380 | NA | NA | ID, ASD, DD, OCD |
19 | Patient 2 | 2 | F | Yamamoto T, 2013 [13] | 11p13p12 | 10.5 | GRCh 35 (hg17) | 32,990,627 | 43,492,580 | 75.6 cm (−3.5SD) | 11.9 kg (+0.8SD) | DD |
20 | NIH1 | 26 | M | Xu S, 2008 [4] | 11p14p12.1 | 10.2 | GRCh 35 (hg17) | 27,692,635 | 37,916,281 | NA | NA | ID, ASD |
21 | F19a | 5 | M | Xu S, 2008 [4] | 11p14p12.2 | 10.1 | GRCh 35 (hg17) | 26,699,475 | 36,757,882 | NA | NA | ID, DD, ASD |