Table 2 Established genomic disorders detected

607872

1p36

2

2

-

-

612474/612475

1q21.1 ^$

42

20

22

-

600430

2q37

4

4

-

-

609425/611936

3q29

8

2

6

-

194190

Wolf-Hirschhorn

2

2

-

-

123450

Cri du Chat

3

3

-

-

175100

Familial Adenomatous Polyposis 1

1

1

-

-

117550

Sotos

2

2

-

-

194050/609757

Williams-Beuren

14

6

7

1

183600

Split-Hand/Foot Malformation 1

2

2

-

-

610253

Kleefstra

4

4

-

-

194072

WAGR

1

1

-

-

176270/105830

Prader-Willi/Angelman

19

10

7

2

612001

15q13.3 ^$

26

26

-

-

613406/613406

15q24

2

2

-

-

*

15q26

1

1

-

-

141750

ATR-16

2

2

-

-

**

16p13.11 ^$

45

13

32

-

136570

16p12.1 ^$

24

24

-

-

613444

Distal 16p11.2 ^$

8

8

-

-

611913

Proximal 16p11.2 ^$

60

35

24

1

247200

Miller-Dieker

9

4 ^

5 ^

-

118220/162500

Charcot-Marie-Tooth/Neuropathy, Hereditary, With Liability To Pressure Palsies

7

4

3

-

182290/610883

Smith-Magenis/17p11.2

10

8

2

-

613675

17q11.2

4

4

-

-

137920

Renal Cysts And Diabetes

10

10

-

-

610443/613533

17q21.31

3

2

1

-

115470

Cat-Eye

1

-

1 ^

-

188400/192430/608363

22q11.2

83

64

19

-

611867

Distal 22q11.2

9

2

7

-

606232

Phelan-Mcdermid

8

8

-

-

308100

X-linked Ichthyosis

11

11 ^^

-

-

312080

Pelizaeus-Merzbacher

1

-

-

1

312750/300260

Rett/MECP2

2

-

2 ^^^

-