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Table 1 Details of the 22q13.3 deletions identified in 34 individuals with Phelan-McDermid syndrome

From: A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

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
  1. NA not available
  2. aThe outsourced laboratory did not specify the platform on the report