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Table1 Details of the 22q13.3 deletions in 20 individuals with PMS

From: A 29 Mainland Chinese cohort of patients with Phelan–McDermid syndrome: genotype–phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes

Patient Ascertainment method Rearrangement Array coordinates (hg19) Deletion or duplication size (kb) Genes Inheritance Other chromosome
P1 SNP Deletion 2,243,352,384–51,197,766 7987 Many NK None
P2 SNP Deletion 43,428,841–51,197,766 7956 Many De novo None
P3 aCGH Deletion 45,193,180–51,178,213 6042 Many De novo None
P4 SNP Duplication and (43,199,808–47,056,500) × 3; 3891 Many NK None
   Deletion 47,056,555–51,197,766 4044 Many   
P5 SNP Deletion 43,629,482–51,197,766 7568 Many NK None
P6 aCGH Deletion 46,615,777–51,178,213 4710 Many NK None
P8 SNP Deletion 46,688,687–51,220,738 4426 Many NK None
P9 SNP Deletion 51,073,379–51,197,838 124 Many NK None
P15 SNP Deletion 51,121,363–51,197,766 76 SHANK3, ACR De novo None
P16 SNP Deletion 43,674,432–51,139,778 7649 Many NK None
P17 SNP Deletion 47,486,331–51,183,840 3698 Many NK None
P18 SNP Deletion 48,100,752–51,177,162 3004 Many NK None
P19 QPCR Deletion 51,121,768–51,121,840; 51,158,612–51,160,865 57 SHANK3 De novo None
P20 SNP Deletion 51,128,324–51,197,766 69 SHANK3, ACR NK None
P21 SNP Deletion 49,882,209–51,197,726 1316 Many NK None
P23 SNP Deletion 50,990,475–51,115,526 125 Many NK None
P25 WES Deletion 42,522,566–51,216,419 8909 Many NK None
P26 MLPA Deletion 51,123,013–51,169,790 46 SHANK3 NK None
P27 SNP Deletion 51,135,991–51,169,740 34 SHANK3 NK None
P29 SNP Deletion 50,155,448–51,197,766 1042 Many NK None
  1. NK not known, WES whole exome sequencing, aCGH array-CGH, SNP single nucleotide polymorphism, MLPA multiplex ligation-dependent probe amplification, QPCR quantitative real-time PCR