Table 1 Details of the 22q13.3 deletions identified in 34 individuals with Phelan-McDermid syndrome
ID | Gender | Copy number evaluation method | Rearrangement | Array coordinates (hg19[GRCh37]) | Deletion size (Mb) | Genes | Inheritance |
|---|---|---|---|---|---|---|---|
P1 | F | SNP arraya | Deletion | 48810119–51211393 | 2.4 | Many | NA |
P2 | F | aCGH 180K | Deletion | 43371148–51186249 | 7.8 | Many | NA |
P3 | F | FISH | Deletion | NA | NA | SHANK3 | NA |
P4 | M | aCGH 180K | Deletion (mosaic) | 42839080–51174293 | 8.3 | Many | NA |
P5 | M | FISH | Deletion | NA | NA | SHANK3 | NA |
P6 | M | aCGH 60K | Deletion | 42865291–51219009 | 8.3 | Many | De novo |
P7 | F | aCGH 180K | Deletion | 49608334–51186249 | 1.5 | Many | NA |
P8 | F | SNP array 750K | Deletion | 46276401–51197766 | 4.9 | Many | NA |
P9 | F | SNP array 400K | Deletion | 48771374–51171678 | 2.4 | Many | De novo |
P10 | F | aCGHa | Deletion | 48434307–51178213 | 2.7 | Many | De novo |
P11 | F | SNP array 400K | Deletion | 50667787–51171678 | 0.5 | Many | De novo |
P12 | M | SNP array 400K | Deletion | 51122360–51171678 | 0.049 | SHANK3 | De novo |
P13 | M | SNP array 750K | Deletion | 47557877–51197766 | 3.6 | Many | NA |
P14 | M | aCGHa | Deletion | 50241089–51178213 | 0.9 | Many | NA |
P15 | M | SNP array 400K | Deletion | 43492638–51197766 | 7.7 | Many | NA |
P16 | M | SNP array 400K | Deletion | 45235285–51171678 | 5.9 | Many | De novo |
P17 | F | FISH | Deletion | 51104247–51178574 | 0.074 | SHANK3, ACR | NA |
P18 | F | aCGH 180K | Deletion | 51123491–51224252 | 0.1 | SHANK3, ACR, RABL2B | NA |
P19 | F | aCGH 44K | Deletion | 49595567–51178405 | 1.5 | Many | De novo |
P20 | F | aCGH 180K | Deletion | 43213659–51224252 | 8.0 | Many | NA |
P21 | F | SNP array 750K | Deletion | 46168628–51115526 | 4.9 | Many | NA |
P22 | M | MLPA | Deletion | NA | NA | ARSA, SHANK3 | NA |
P23 | F | MLPA/FISH | Deletion | NA | NA | SHANK3 | NA |
P24 | F | aCGH 60 K | Deletion | 43213481–51178354 | 7.9 | Many | NA |
P25 | F | SNP array 750K | Deletion (mosaic) | 42399686–51197766 | 8.79 | Many | De novo |
P26 | M | aCGH 180K | Deletion | 49123097–51224252 | 2.1 | Many | NA |
P27 | M | SNP array 850K | Deletion | 42152988–51211392 | 9.0 | Many | NA |
P28 | F | SNP array 400K | Deletion | 47497833–51171678 | 3.67 | Many | De novo |
P29 | M | FISH | Deletion | NA | NA | SHANK3 | NA |
P30 | M | aCGH 180K | Deletion | 47963467–51219009 | 3.25 | Many | NA |
P31 | M | SNP array 750K | Deletion | 50274217–51197766 | 0.9 | Many | NA |
P32 | M | aCGH 180K | Deletion | 51123491–51224252 | 0.1 | SHANK3, ACR, RABL2B | NA |
P33 | F | SNP array 850K | Deletion | 46814671–51211392 | 4.39 | Many | NA |
P34 | M | SNP arraya | Deletion | 43094876–51197838 | 8.1 | Many | NA |