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Table 3 List of all the syndromes identified (class I imbalances) and the number of cases

From: Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

Syndrome

Chromosome

OMIM ID

Number of cases

Chromosome 1q21.1 deletion syndrome

1q21.1

612474

3 na

Chromosome 1q21.1 duplication syndrome

1q21.1

612475

1 na

Chromosome 3q29 deletion syndrome

3q29

609425

1 mat

Chromosome 3q29 duplication syndrome

3q29

611936

2 (1pat, 1na)

Wolf-Hirschhorn syndrome

4p16.3

194190

1 dn

Cri du Chat syndrome

5p

123450

1 na

Williams-Beuren region duplication syndrome

7q11.23

609757

2 (1dn, 1na)

Cohen syndrome

8q22.2

216550

1 na

Chromosome 9p deletion syndrome

9p

158170

1 dn

Kleefstra syndrome

9q34.3

610253

1 na

Chromosome15q11q13 duplication syndrome

15q11q13

608636

1 na

Chromosome 15q13.3 deletion syndrome

15q13.3

612001

1 na

Chromosome 16p11.2 deletion syndrome

16p11.2

611913

5 (1pat, 2dn, 2na)

Chromosome 16p11.2 duplication syndrome

16p11.2

614671

3 (1dn, 2na)

Smith –Magenis syndrome

17p11.2

182290

1 na

Potocki-Lupski syndrome

17p11.2

610883

2 dn

Chromosome 17q12 duplication syndrome

17q11.2

614526

2 (1mat,1na)

Chromosome 19q13.11 deletion syndrome

19q13.11

613026

1 dn

Chromosome 22q11.2 deletion syndrome, distal

22q11.2

611867

5 (1pat, 3dn, 1na)

Chromosome 22q11.2 duplication syndrome

22q11.2

608363

3 (1pat, 1dn, 1na)

Triple X

X

 

1dn

Klinefelter

X

 

1dn

  1. mat maternal origin, pat paternal origin, dn de novo, na inheritance not available