|
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
|
