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Table 2 Numbers of the most common genomic syndromes detected among 5369 New Zealand patientsa

From: Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients

OMIM #

Syndrome

Number

del x1

dup x3

trp x4

612474/612475

1q21.1c

31

9

22

-

612530

1q41q42

3

3

-

-

612313

2q32

2

2

-

-

609425

3q29

4

4

-

-

194190

4p16.3

3

1

2

-

149730

LADD syndrome

2

2

-

-

123450

Cri du Chat

1

1

-

-

117550

Sotos

1

1

-

-

194050/609757

7q11.23

16

12

4

-

613729

Distal 7q11.23

4

4

-

-

610253

Kleefstra

2

2

-

-

194072

WAGR (WT1)

1

1

-

-

601803

Pallister-Killian

1

-

-

1

615656

15q11.2c

37

21

16

-

105830/176270

AS/PWS

10

10

-

-

612001

15q13.3c

17

17

-

-

611913/614671

16p11.2c

29

21

7

1

613444

16p11.2c

5

5

-

-

613604

16p12.2-p11.2c

1

1

-

-

Hanner (2009) [22]

16p13.11c

13

6

7

-

614527/614526

17q12 (HNF1β)

12

5

7

-

610883

Potocki-Lupski

7

-

7

-

182290

SMS

1

1

-

-

118220/162500

CMT/NHPP

6

5

1

-

247200/613215

17p13.3

5

3

1

1

610443/613533

17q21.31

5

3

2

-

613675

NF1

3

3

-

-

115470

Cat eye syndrome

1

-

1

-

188400/192430

DGS/VCFS

13

13

-

-

606232

Phelan McDermid

8

8

-

-

312865/400020

SHOX b

3

3

-

-

300260

MECP2

2

-

2

-

310200

DMD

2

2

-

-

  1. a The table uses the format reported by Ahn et al. [3]
  2. b includes enhancer deletion of the SHOX gene
  3. c susceptibility loci/low penetrance