Table 1 Deletions in the NRXN1 gene in clinical referrals for array CGH analysis in the present study

1

50,318,520

51,260,612

942

1-20

Paternal

-

Developmental delay

3

2

51,116,137

51,260,612

144

1-5

De novo

-

Developmental delay, failure to thrive, pulmonary stenosis, hearing disorder, microcephaly, short stature, ?Noonan syndrome

1

3

51,205,906

51,260,612

55

1-3

N.A.

-

Learning difficulties

9

4

51,245,074

51,260,612

16

1-3

N.A.

13q31.1(85,376,208-86,370,409)x1

ADHD, learning disability

41

5

51,245,074

51,260,612

16

1-3

N.A.

-

Developmental delay

4

6

51,251,498

51,260,612

9

1-3

N.A.

-

Delayed (atypical) cognitive development, speech & language development disorder, motor skills development disorder

1

7

51,251,498

51,260,612

9

1-3

N.A.

-

Marked developmental delay, marked hypotonia (generalised), hypoplastic nails

2

8

51,221,421

51,230,518

9

(intron 3)

N.A.

-

?Peutz-Jegher syndrome

11

9

51,180,561

51,199,026

18

(intron 3)

N.A.

-

Developmental delay, autism

2

10

50,850,691

51,153,106

302

4-7

N.A.

-

Developmental delay, speech delay

3

11

50,957,455

51,199,026

242

4-5

De novo

7q35(145,650,395-146,558,801)x1 pat (CNTNAP2)

Early-onset epilepsy, myoclonic seizures, speech delay

5

12

50,937,444

51,166,725

229

4-5

Maternal

14q21.1(41,234,592-41,532,307)x1 mat

Developmental delay

6

13

51,037,104

51,153,106

116

4-5

N.A.

-

Developmental delay, epilepsy, dystonia, microcephaly, squint

2

14

51,037,104

51,153,106

116

4-5

N.A.

-

Autism

7

15

51,072,302

51,172,182

100

4-5

N.A.

-

Amenorrhoea, premature ovarian failure

32

16

51,153,052

51,189,385

36

4

N.A.

-

Anterior anus

0

17

50,902,782

51,148,567

246

(intron 5)

Maternal

7q11.23(72,700,414-73,777,326)x1 (Williams Beuren syndrome)

Developmental delay, microcephaly, behaviour problems

4

18

51,008,023

51,122,150

114

(intron 5)

N.A.

-

Developmental delay, speech delay, small mouth, microcephaly

10

19

51,075,491

51,148,567

73

(intron 5)

N.A.

-

Congenital heart defect

0

20

51,043,498

51,109,749

66

(intron 5)

N.A.

-

Developmental delay, speech delay, social communication difficulties

3

21

51,043,498

51,088,201

45

(intron 5)

N.A.

-

Behavioural problems

6

22

51,021,452

51,049,704

28

(intron 5)

N.A.

-

Autism, moderate learning difficulties

11

23

51,049,645

51,066,637

17

(intron 5)

Maternal

-

Dysmorphic, ?bronchiolitis

0

24

51,049,645

51,066,637

17

(intron 5)

Maternal

-

Interuterine growth retardation, pitting oedema, duplex right kidney, undescended right testis, single palmar creases

0

25

51,100,412

51,113,311

13

(intron 5)

N.A.

-

Myoclonic epilepsy episodes since six weeks of age

0

27

50,902,782

50,943,419

41

(intron 5)

Paternal

-

Speech delay, social communication difficulties

5

28

50,982,113

51,003,663

22

(intron 5)

N.A.

22q11.21(18,896,971-21,377,825)x3 (22q11.2 duplication syndrome)

Autism

10

29

50,982,113

51,003,663

22

(intron 5)

N.A.

Dysplastic kidneys, ventral-septal defect,cryptorchidism

0

30

50,918,448

50,933,351

15

(intron 5)

Maternal

22q11.21(18,896,972-21,440,514)x3 dn (22q11.2 duplication syndrome)

Epilepsy with focal seizures

11

31

50,943,360

50,957,514

14

(intron 5)

N.A.

-

Learning difficulties, ADHD, autism

7

32

50,505,606

50,909,824

404

6-18

De novo

-

Developmental delay, severe speech delay

5

26

50,775,890

51,037,163

261

6-10

De novo

-

Developmental delay, hypotonia, speech delay

6

33

50,744,594

50,831,617

87

10-13

N.A.

-

Developmental delay

1

34

50,450,675

50,600,302

150

19

N.A.

8q23.3(113,960,008-114,131,155)x1 (CSMD3)

Developmental delay, autism

4