|
STT
|
Hội chứng
|
STT
|
Hội chứng
|
STT
|
Hội chứng
|
|
1
|
7q deletion
|
31
|
Xp21 deletion syndrome
|
61
|
2q35 duplication syndrome
|
|
2
|
18q microdeletion syndrome
|
32
|
Cri-du-chat syndrome
|
62
|
3q29 deletion syndrome
|
|
3
|
9p microdeletion syndrome
|
33
|
WAGRO syndrome
|
63
|
3q29 duplication syndrome
|
|
4
|
14q11-q22 deletion syndrome
|
34
|
Holoprosencephaly 6
|
64
|
8q22.1 deletion syndrome
|
|
5
|
Pallister-Killian syndrome(PKS)
|
35
|
4q21 microdeletion syndrome
|
65
|
8q22.1 duplication syndrome
|
|
6
|
16p deletion syndrome
|
36
|
17p12-p11.2 Yuan-Harel-Lupskisyndrome
|
66
|
Angelman syndrome(Type I)/Prader-Willi syndrome
|
|
7
|
1p32-p31 microdeletion syndrome
|
37
|
11q23 deletion syndrome
|
67
|
21q22.3 Holoprosencephaly1
|
|
8
|
6q11-q14 microdeletion syndrome
|
38
|
15q25 deletion syndrome
|
68
|
WAGR syndrome
|
|
9
|
Homozygous 11p15-p14 deletion
|
39
|
DiGeorge syndrome type 2
|
69
|
7q11.23 deletion syndrome
|
|
10
|
8q12.1-q21.2 deletion syndrome
|
40
|
Langer-Giedion syndrome
|
70
|
7q11.23 duplication syndrome
|
|
11
|
Xq21 deletion syndrome
|
41
|
2p16.1-p15 deletion syndrome
|
71
|
15q26.1 Diaphragmatichernia,congenital(HCD/DIH)
|
|
12
|
1q41-q42 microdeletion syndrome
|
42
|
Terminal 6q Microdeletion
|
72
|
2p16.3 microdeletion syndrome
|
|
13
|
6q24-q25 microdeletion syndrome
|
43
|
4q32.1-q32.2 triplication syndrome
|
73
|
1p21.3 microdeletion syndrome
|
|
14
|
2q34-q36 duplication syndrome
|
44
|
16p12.2-p11.2 microdeletion syndrome
|
74
|
Xq22.3 deletion syndrome
|
|
15
|
Jacobsen syndrome
|
45
|
Xp11.23-p11.22 duplication syndrome
|
75
|
5q13.2 microdeletion syndrome
|
|
16
|
Dandy-Walker syndrome
|
46
|
2q31.1 duplication syndrome
|
76
|
13q34 monosomy
|
|
17
|
14q32 microduplication syndrome
|
47
|
2q33.1 microdeletion syndrome
|
77
|
Angelman syndrome(Type II)
|
|
18
|
18p microdeletion syndrome
|
48
|
Xq28 deletion syndrome
|
78
|
18q21.1 Dyggve-Melchior-Clausen syndrome(DMC)
|
|
19
|
10q26 microdeletion syndrome
|
49
|
16p13.3 deletion syndrome
|
79
|
Wolf-Hirschhorn syndrome
|
|
20
|
2p12-p11.2 microdeletion syndrome
|
50
|
16p13.3 duplication syndrome
|
80
|
Sotos syndrome 1(SOTOS1)
|
|
21
|
5q14.3 microdeletion syndrome
|
51
|
16p11.2-p12.2 microduplication syndrome
|
81
|
Xp11.3 deletion syndrome
|
|
22
|
13q14 microdeletion syndrome
|
52
|
5q12 microdeletion syndrome
|
82
|
3q13.31 deletion Syndrome
|
|
23
|
10q22.3-q23.2 microdeletion syndrome
|
53
|
3pter-p25 deletion Syndrome
|
83
|
8p23.1 microdeletion syndrome
|
|
24
|
5p13 microduplication syndrome
|
54
|
1p31 microduplication syndrome
|
84
|
8p23.1 microduplication syndrome
|
|
25
|
15q26-qter deletion syndrome
|
55
|
16q22 deletion syndrome
|
85
|
12q14 microdeletion syndrome
|
|
26
|
15q26-qter Levy-Shanske syndrome
|
56
|
Frias syndrome
|
86
|
Potocki-Lupski syndrome
|
|
27
|
6pter-p24 microdeletion syndrome
|
57
|
19p13.13 microdeletion syndrome
|
87
|
Smith-Magenis syndrome
|
|
28
|
Split-hand or foot
|
58
|
CHDM(chordoma)
|
88
|
15q26 Overgrowth syndrome
|
|
29
|
Xq27.3-q28 duplication syndrome
|
59
|
17q12 deletion syndrome
|
89
|
5q deletion syndrome
|
|
30
|
1p36 microdeletion syndrome
|
60
|
17q12 duplication syndrome
|
90
|
DiGeorge syndrome (22q11.2 deletion)
|