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Table 2 Summary of type I and II CNVs

From: Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray

Patient Karyotypea Size (Mb) No. of genes DECIPHERb Syndrome Candidate gene
Type I       
 1 arr 22q11.21(18729944–21704972) × 1 3 64 19 22q11.2 TBX1
 2 arr 22q11.21(20659547–21704972) × 1 1 21 16 22q11.2 -
 3 arr Yp11.32-p11.2(545173–10045809) × 3 9.5 50 11   SHOX
Type II       
 4 arr 4q11-q13.1(52697788–59679060) × 3 7 39 0 - TMEM165, POLR2B
 5 arr 4q12(54749407–55157199) × 3 0.4 4 0 - PDGFRA
  1. aGenomic coordinates were based on Human Genome Building GCRh37, hg19
  2. bNumber of overlapping CNVs reported in the DECIPHER database with the feature of postnatal-onset short stature