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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
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Molecular Cytogenetics

ISSN: 1755-8166