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ID #
Test
Nomenclature
Indication
Size Range (Mb)
Developmental Delay
Clones
Involved
4
1
Const
arr cgh 15q11.2(RP11-289D12→RP11-26F2)×3
2
1Mb
Priority Hydrops
19, 4
20.1-23.3, 0.9-3.8
Const
arr cgh 10q25.1q26.3(RP11-271113→RP1190013)×3,10q26.3(AL392043.21→CTC-261B16)x1
arr cgh 4p16.3(GS-36P21→RP11-478C1)×1
3
Multiple Congenital Anomalies
10
2.1-2.7
4
Combo
arr cgh Yq11.23(RP11-336F2→RP11-79J10)x2
Male Infertility
4
0.1-36.3
5
Combo
Multiple Congenital Anomalies
15, 8
14.9-18.1, 2.2-4.6
6
1Mb
arr cgh 2q35q37.2(RP11-247E23→RP11-88P18)×3,2q37.3(RP11202B7→RP11-341N2)x1
arr cgh 9pterp12(RP1-43N6→RP11-12P15)×3
Multiple Congenital Anomalies
44
104.0-137.7
7
Const
Multiple Congenital Anomalies
3, 5
2.6-11.5, 1.1-10.8
8
Combo
arr cgh 12pterp13.33(RP11-598F7→RP11407G6)×1,20q13.33qter(RP11-157P1→RP5-963E22)x3
arr cgh 21q22.3qter(RP11-88N2→GS-63H24)×3
R/O Any Chromosome abnormality
4
3.4-11.6
9
1Mb
Ambiguous genitalia
13,32
8.4-8.56, 26.37-26.78
10
Const
arr cgh 9p24.3p23(RP1-43N6→RP11376O21)×1,11q22q25(RP11-209E9→RP11469N6)x3
arr cgh Xp21.1p21.2(RP11-377J16→RP5-1147O16)×1
Seizure disorder, dysmorphic features
6
0.65
11
1Mb
arr cgh 10q22.3q23.1(RP11-93O23→RP11-52G13)×1
R/O Any Chromosome abnormality
7
19.4
12
1Mb
arr cgh 11q24q25(RP11-41K5→RP11-469N6)×1
Priority R/O DiGeorge Syndrome
11
8-8.3
13
1Mb
arr cgh 7p21.3p15(RP11-451C12→RP11-1179D17)×1
R/O Any Chromosome abnormality
24
11-15.9
14
1Mb
R/O Any Chromosome abnormality
6, 2
3.2-4.2, 1.9
15
Const
arr cgh 5pterp15.3(RP1-84C11→RP11-89N22)×1,5q35.3(RP11626B22→RP1-240G13)×3
arr cgh 15q11.2(5E9'→14l12)×1
R/O Any Chromosome abnormality
2
0.2-10.5
16
Combo
arr cgh 2q31.1(RP11-451F14→RP11-12N7)×1
R/O Any Chromosome abnormality
2
1.2-3.3
17
Combo
arr cgh 22q13.2-q13.3(RP1-262A13→RP11-99K24)x1
R/O Any Chromosome abnormality
4
2.2-3.6
18
1Mb
arr cgh 5q14q15(RP11-88D22→RP11-204D12)×1
R/O Any Chromosome abnormality
2
4.7-10.6
19
Const
arr cgh 15q11.215q12(5E9'→14l12)×1
Developmental Delay, Microcephaly
2
0.2-10.5
20
1Mb
R/O Any Chromosome abnormality
14
11.9-13.4
21
1Mb
R/O Any Chromosome abnormality
5, 4
3.8-4.4, 4.7-6.9
22
Const
arr cgh 9q21.33q31(RP11-563G12→RP1191L19)x3,9q33q33.1(RP11-88F16→RP11-98E22)x1
arr cgh 15q26.2qter(RP11-80F4→RP1-154P1)×1,17q24qter(CTD2357A8→CTB-50C4)×3
arr cgh 15q11.2(RP11-289D12→RP11-26F2)×1
R/O Any Chromosome abnormality
2
0.2-3.6
23
Combo
arr cgh 15q11.2q13.1(RP11-810K23→RP11-595N10)×1
R/O Any Chromosome abnormality
9
6.5-8.3
24
Combo
arr cgh 6q16.1-6q21(RP1-104O17→RP1-136O14)×1
R/O Any Chromosome abnormality
22
18.3-20.5
25
Const
arr cgh 1pter-1p36.33(RP11-671C15→RP11-547D24)×1
R/O Any Chromosome abnormality
4
2.1-12.2
0.3-7.4
26
Combo
arr cgh 10q23.3p26.3(RP11-152G7→RP11-108K14)×3(mos)
R/O Any Chromosome abnormality
48,11
42.3-42.4
27
Combo
arr cgh 6q21q22.1(RP1-70A9→RP1-224E15)×1
R/O Any Chromosome abnormality
13
10.9-13.4
28
1Mb
R/O Any Chromosome abnormality
1,40
0.13-0.15, 33.2-37.2
29
1Mb
arr cgh 12p13.33(RP11-598F7)×1,12p13.33p11.1(CTB124K20→RP11-460N10)×3
arr cgh 21q22.11q22.12(RP11-79D9→RP11-17O20)×1
R/O Any Chromosome abnormality
3
2.2-7.6
30
Combo
arr cgh 6q22.33-6q23.2(RP11-368O13→RP5-899B16)×1
R/O Any Chromosome abnormality
9
6.4-8.4
31
Combo
arr cgh 11q21q23.2(RP11-163O18→RP11-651D13)×1
46,XX,del(11q14q21)
18
21.5-24.3
32
Combo
arr cgh Xq26.2q28(RP1-177G6→CTD-2537J14)×1
14
10.0-13.7
33
Combo
arr cgh 10q26qter(RP11-122K13→RP11-108K14)×1
Mental retardation, Chromosome
abnormality
Multiple Congenital Anomalies Priority
4
0.2-0.8
34
1Mb
0.5-1.0, 35.2-37.3
Combo
R/O Aneuploidy, attn to chromosome 8
Priority
MR
2, 42
35
arr cgh 8p23.3p23(RP4-580L5→RP1191J19)×1,8p23.3p11.2(CTB-77L23→RP11-89M20)×3
arr cgh 2q37.3qter(GS-1011-O17→RP11-341N2)×1
2
10.2-10.6
36
Combo
arr cgh Xq28qter(cH3.1→GS-225-F6)×3
2
2.5-5.3
37
Const
arr cgh 15q11.2q11.2(RP11-289D12→RP11-80H14)×1
2
0.1-1.0
38
Combo
arr cgh 22q11.2q11.2(RP11-319F4→RP11-81B3)×3
Static Encephalopathy, Autism, Mental
Retardation
Devlopmental delay, Short Stature,
Dysmorphic Stature
R/O Any Chromosome abnormality
4
1.3
39
1Mb
arr cgh 5q23.2q31.1(RP11-42M12→CTC-276P9)×3
R/O Any Chromosome abnormality
8
7.4-16.3
40
Combo
arr cgh 19pter-19p13.3(RP4-546C11→CTB-129F16)×3
Developmental Delay, Short Stature
3
0.12-0.57
41
1Mb
arr cgh 17p13.3p13(CTB-68F18→RP11-89D11)×3
Chromosome abnormalities
19
7.6-8.3
42
Const
Developmental Delay
4, 3
2.0-12.2, 0.2-1.1
43
Combo
19.2-19.9, 0.2-21
1Mb
Microcephaly, Developmental delay,
hirsutism, minor anomalies
7 q deletion
30, 2
44
arr cgh 1pterp36.33(GS-62-L8→RP11547D24)×3,16pterp13.3(RP11-568F1→RG-191-K2)×1
arr cgh 4p16.3p15.3(RP1-36P21→RP1111M9)×3,18p11.32p11.32(CTB-74G18→P1-52M11)×1
arr cgh 7q35qter(RP11-79K23→RP1-3K23)×1
8
11.1-13.4
45
1Mb
arr cgh 8q23.3q24.1(RP11-3A12→RP11-88J18)×1
R/O Any Chromosome abnormality
5
9.2-12
46
1Mb
arr cgh 9pterp12(RP1-43N6→RP11-12P15)×3
Down Syndrome
42
37-70
47
1Mb
arr cgh 5pterp15.32(RP1-84C11→RP11-58A5)×1
22q deletion Priority
7
5.1-6.3
48
Combo
arr cgh 17q24q24(RP11-91M1→RP11-91O17)×3
Multiple Congenital Anomalies
2
0.2-1.8
49
1Mb
arr cgh 3q26.2q26.3(RP11-258G22→RP11-114M1)×3
R/O Any Chromosome abnormality
8
9.2-9.8
50
1Mb
R/O DiGeorge, Trisomy
2, 45
0.1-0.9, 45.1-46.0
51
1Mb
arr cgh 6q26qter(RP1-140C12→RP157H24)×1,Xpterp11.3(LLNOYCO3M15D10→RP1-192P9)×3
arr cgh 2q34qter(RP11-44J16→RP5-1011O17)×3,4pterp16.3(RP136P21→RP11-20I20)×1dn
Trisomy 3
30, 3
28.3-29.6, 1.3-1.6
52
Combo
arr cgh 1q44qter(RP11-407H12→CTB-167K11)×3
Ambiguous genitalia, MCA Priority
3
0.5-1.2
53
1Mb
arr cgh 20q11.2q12(RP11-138A15→RP1-3E5)×1
R/O Any Chromosome abnormality
8
4.9-6.2
54
1Mb
arr cgh 13q21.1q32.1(RP11-298H15→RP11-83D23)×1
R/O Any Chromosome abnormality
31
30.5-34.4
55
Combo
arr cgh 10q11.22q11.23(RP11-314P12→RP11-92I18)×1
3
3.9-7.6
56
1Mb
5, 5, 4, 6
3.7-5.2, 4.7-8.0, 0.72.3, 5.7-8.6
57
Combo
arr cgh 1p31.2p31.2(RP4-534K7→ RP11-131O15)×1,
1q25q31.1(RP11-79I7→ RP11-113I24)×1, Xq13.1q13.2(RP13260P4→ RP3-368A4)×1, Xq21.1q21.2(RP3-473J6→ RP11465C5)×1
arr cgh Xp22.33p11.1(LLNOYCO3M15D10→RP11-363G10)×1
Dev. Delay, growth retardation, multiple
minor anomalies
Microcephaly, Developmental delay
R/O Any Chromosome abnormality
83
entire p arm
58
Combo
arr cgh Xp22.33p11.1(LLNOYCO3M15D10→RP11-637B23)x1
R/O Any Chromosome abnormality
84
entire p arm
59
Combo
arr cgh 15q11.2q11.2(RP11-80H14→RP11-26F2)×1
R/O Any Chromosome abnormality
3
0.2-1.9
60
1Mb
0.1-0.5, 0.8-4.7
Combo
Short Stature, Multiple Minor Anomalies,
dev. Delay
R/O Any Chromosome abnormality
1, 2
61
arr cgh 8q12.1(RP11-99M6)×3,16p12p12(RP11-141E3→RP11450G5)×1
arr cgh 14q32.2qter(RP11-90G22→CTC-200D12)×1
7
6.0-7.5
62
Combo
arr cgh 5q35.2q35.3(CTC-355H1→RP11-933K12)×1
R/O Any Chromosome abnormality
5
1.8-3.8
63
Combo
arr cgh 4p16.3p15.3(RP11-20I20→RP11-91N13)×3
22
15.1-15.9
64
1Mb
arr cgh 17pterp13(CTB-68F18→RP11-216P6)×1
Dev. Delay, Short Stature, microcephaly,
dysmorphic features
R/O Any Chromosome abnormality
7
0.78-1.7
65
Combo
arr cgh 7p21p15(RP11-22K15→CTB-23M10)×1
R/O Any Chromosome abnormality
21
18.4-11
66
Combo
arr cgh 1p36.32p36.22(RP11-447M5→RP1-173D1)×1dn
7
6.7-8.5
67
Combo
arr cgh 3q26.3q26.3(RP11-172G5→RP11-102G2)×1
Multiple minor anomalies, R/O chromosome
mosaicism
R/O Any Chromosome abnormality
12
9.7-11.7
68
Combo
arr cgh 22q11.21q11.21(RP11-319F4→RP11-81B3)×3
Multiple Congenital Anomalies
4
16.9-17.6
69
Combo
arr cgh 15q26.3(RP11-14C10→GS-154-P1)×3
R/O Any Chromosome abnormality
2
0.2-1.2
70
Combo
arr cgh 2pterp25.3(RP5-892G20→RP11-625N16)×1
R/O Any Chromosome abnormality
5
0.6-2.7
71
Combo
arr cgh 2q37.3qter(RP11-341N2→RG-172-I13)×1
Developmental Delay, Dysmorphic features
3
0.7-0.8
72
1Mb
Marker chromosome
42, 4
36.8-70.4, 18.3-20.6
73
Combo
arr cgh 9pterp12(RP1-43N6→RP11-12P15)×3,22pterq11.2(RP1191O6→RP11-316L10)×3
arr cgh 2q37.3qter(RP11-341N2→RG-172-I13)×1
R/O Any Chromosome abnormality
3
0.7-0.8
74
Const
arr cgh 2q37.3qter(RP11-341N2→RG-172-I13)×1
Developmental delay/unusual facies
3
0.7-0.8
75
Combo
arr cgh 2pterp25.3(RP5-892G20→CTB8L3)×1,2p25.3p25.3(RP11-625N16→RP11513H7)×3,9q33.2qter(RP11-342H3→CTB-135I17)x3
Developmental Delay, Dysmorphic, possible
del of 2p
4, 5
0.4-0.5, 2.8-4.0
76
Combo
arr cgh 5q13q13(RP11-91C10→RP11-551B22)×1
R/O Any Chromosome abnormality
2
3.2-5.7
77
Combo
arr cgh 22q12(RP11-91K24→RP11-247I13)×3
Syndrome of unknown cause
4
4.6-6.9
78
1Mb
arr cgh 8p23.1p23.1(RP11-18L2→RP11-252K12)×1
R/O Any Chromosome abnormality
6
2.4-4.5
79
Combo
arr cgh 10q26.3q26.3(RP1-137E24→RP11-108K14)x3
Failure to thrive
4
0.2-0.8
80
Combo
arr cgh 12pterp13.33(RP11-598F7→RP11-283I3)×3
R/O Any Chromosome abnormality
4
0.3-0.6
81
Combo
arr cgh 8q21.3q24.3(RP11-89F14→CTC-261I1)×3
Velocardio facial syndrome
47
53.7-55.8
82
Combo
arr cgh 1p34p34(RP4-811I8→RP5-1029K14)×3
R/O Any Chromosome abnormality
6
5.2-6.9
83
Combo
R/O Any Chromosome abnormality
6, 3
4.0-5.9, 3.8
84
Combo
R/O Any Chromosome abnormality
2, 1
1.6-1.7, 0.2-3.6
85
Combo
arr cgh 14q32.32qter(RP11-365N19→CTC200D12)×1,19q13.43(RP11-420P11→RP11-1129C9)×3
arr cgh 15q26.3q26.3(RP11-397C10→RP11168G16)×3,18p11.32q11.2(CTB-74G18→RP11676D16)×3,18q12(RP11-79G13)×1
arr cgh 15q26q26(RP11-79A7→RP11-369O17)×1
46,XY,ins(5;15)(q31;q22q24)t(11;5)(q34;q24)
2
1.0-5.0
86
1Mb
arr cgh 1p36.11p36.2(RP3-330O12→RP11-219C24)×3
Multiple Congenital Anomalies
3
1.8-3.2
87
Combo
arr cgh 17q24q24(RP11-91M1→RP11-91O17)×3
Congenital Anomalies
2
0.2-1.7
88
Combo
arr cgh 6q24.1q25.1(RP11-432L12→RP1-257I9)×1
Chromosome 6q deletion
14
14.5-17.1
89
1Mb
arr cgh Xp22.3p22.3(RP11-294K6→RP11-143E20)x0
STS deletion on both X chromosomes
2
1.3-2.4
90
Combo
arr cgh 2pterp25.3(RP5-892G20→RP11-1N7)×1
2
0.2-0.4
91
1Mb
13, 4, 6,
3
27.9-29.2, 6.5-8.3,
5.6-6.0, 3.3-5.1
92
Combo
arr cgh 21q11.2q21.3(153I22→RP1190A17)x3,21q22.12q21q22.2(RP11-17O20→RP11120C17)x3,21q22.3(RP11-88N2→RP1-63H24)x1
arr cgh 3q29qter(RP11-313F11→CTB-56H22)×3
Short Stature, learning disabilites,
dysmorphic features
Patient has r(21)
R/O Any Chromosome abnormality
5
1.3-2.7
93
Combo
arr cgh 17p13.3p13.3(RP5-1029F21→RP5-59D14)x1dn
Tetraology of fallot
10
2.0-2.2
94
Const
arr cgh 22q11.2q11.2(RP3-493F17→RP11-278E23)×3
Developmental Delay, Mental Retardation
5
3.0-6.5
95
1Mb
arr cgh 2q14.3q14.3(RP11-91G8→RP11-270M20)×1
R/O Any Chromosome abnormality
2, 11
0.5-3.0, 0.2-5.7
96
Combo
arr cgh 3p26.3p25.3(RP11-204C23→RP11-105H19)x1
R/O Any Chromosome abnormality
9
9.5-12.6
97
Const
arr cgh 2q37.3qter(RP11-341N2→RG-172-I13)×1
Chromosome 2
3
0.7-0.8
98
Combo
R/O Any Chromosome abnormality
12, 6
4.0-5.8, 3.0-7.3
99
Combo
arr cgh 6pterp25(RP3-416J7→RP11-91F13)x3,18q23qter(RP11707P24→RP5-964M9)x1
arr cgh 17q11.2q11.2(RP11-88B16→RP11-521P1)x1
R/O Any Chromosome abnormality
8
4.7-9.8
100
Combo
arr cgh 7q11.23q11.23(B315H11→RP11-89A20)×1
R/O Any Chromosome abnormality
13
1.7-3.2
101
Combo
R/O Any Chromosome abnormality
14, 11
6.1-8.9, 3.9-5.5
Combo
arr cgh 9q34.13qter(RP11-81P5→RP1112N13)x3,10q26.3qter(RP11-90B19→RP11-108K14)x1
arr cgh 16p12p12(RP11-79I15→RP11-109D4)x3
102
R/O Any Chromosome abnormality
2
2.1-5.2
103
1Mb
arr cgh 3p14.1p12.3(RP11-90H15→RP11-220O14)x1
R/O Any Chromosome abnormality
6
6.5-13.6
104
Const
arr cgh 2q37.3qter(RP11-341N2→RG-172-I13)×1
R/O Any Chromosome abnormality
3
0.2-0.8
105
Combo
arr cgh 4q13.3q21(RP11-529K3→RP11-36G19)x3
R/O Any Chromosome abnormality
15
4.5-18.2
106
Combo
arr cgh 10p15p15(RP11-446F3→RP11-80D10)x3
R/O Any Chromosome abnormality
2
0.4-1.2
107
Combo
arr cgh 7q11.22q11.23(RP11-815K3→RP11-229D13)x3
Brain Anomalies, behavior problems
16
4.3-5.5
108
Combo
arr cgh 5q21q23(RP11-89L24→RP11-90A15)x1
R/O Any Chromosome abnormality
6
5.8-11.4
109
Combo
Inversion duplication 8
14, 30
110
1Mb
arr cgh 8p23.3p23.1(RP4-580L5→RP11780O22)x1,8p22p11.1(RP11-90O17→RP11-89A4)x3
arr cgh 4q21.21q21.21(RP11-377G16→RP11-110P12)x1
2
111
Combo
arr cgh 2q22.3q23.1(RP11-67J2→RP11-375H16)x3
Dysmorphic, behavior problems, short
stature
Developmental delay, Dysmorphic features
6.1-7.3, 30.2-36.1,
4.5-6.3
1.1-4.5
5
3.9-6.6
112
1Mb
arr cgh 1pterp36.2(RP11-421C4→RP3-438L4)x1
Dysmorphic, Congenital Anomaly
9
5.9-8.7
113
Combo
der X chromosome
6, 9
1.9-2.8, 12.5-18.3
114
Combo
arr cgh Xp22.33p22.33(LLNOYCO3M15D10→RP51123N13)x1,Yq11.21q11.23(RP11-350I10→RP11-214M24)x1
arr cgh 6q26qter(RP1-182D15→RP1-191N21)x1
R/O Any Chromosome abnormality
4
0.9-2.0
115
Combo
Developmental Delay
13, 7
3.7-4.4, 4.7-6.2
116
1Mb
arr cgh 1q43qter(RP1-241M7→RP1160H23)x3,15q26.2qter(RP11-80F4→RP1-124O5)x1
arr cgh Xp22.33p22.33(RP11-839D20→LLNOYCO3M15D10)x3
Hearing Loss
5
0.3-2.4
117
Const
arr cgh 8q22q23(RP11-79J9→RP11-91K1)x1
Ambiguous Genitalia
6
5.7-12.9
118
1Mb
arr cgh 18pterp11.2(CTB-74G18→RP11-411B10)x4
R/O Any Chromosome abnormality
11
entire p arm
119
Combo
arr cgh 7q11.23q11.23(B315H11→RP11-137E8)x3
R/O Any Chromosome abnormality
12
1.8-2.0
120
Const
arr cgh 15q11.2q12(RP11-385H1→14I12)x1
R/O Any Chromosome abnormality
3
0.7-6.9
121
Combo
arr cgh Xpterp11.21(RP11-839D20→RP11-465E19)x1
R/O Any Chromosome abnormality
1
55.5-57.0
122
1Mb
arr cgh 7q22.3q31.1(RP11-89M2→RP11-90N13)x1
R/O Any Chromosome abnormality
5
2.4-7.6
123
Const
Seizure
5, 2
1.2-12.4, 5.8
124
1Mb
Multiple Congenital Anomalies
19, 23
15.2-16.1, 20.1-55.1
125
Const
arr cgh 1p36.33p36.33(RP11-671C15→RP11547D24)x1,8q24.3qter(GS-261-I1→GS-489-D14)x3
arr cgh 9pterp22.3(RP1-43N6→RP11490C5)x1,9p22.3p13.2(RP11-109M15→RP11-12P15)x3
arr cgh 22q11.21q11.21(RP3-493F17→RP11-316L10)x1
Sensoral recurring hearing loss
4
1.0-6.5
126
1Mb
arr cgh 22q11.21(RP11-186O8→RP11-316L10)x1
R/O Any Chromosome abnormality
2
0.21-2.88
127
Combo
arr cgh 2pterp24(RP5-892G20→RP11-79E20)x3
R/O Any Chromosome abnormality
19
20.0-23.1
128
Const
arr cgh 9q34.3qter(RP11-424E7→GS-135-I17)x3
R/O Any Chromosome abnormality
3
0.1-0.4
129
Combo
arr cgh 2q35q35(RP11-316O14→RP11-79C2)x1
R/O Any Chromosome abnormality
7
14.7-18.5
130
1Mb
R/O Any Chromosome abnormality
10, 3
5.9-8.2, 0.1-0.9
131
Combo
arr cgh 2pterp25.2(RP5-892G20→RP11350H23)x3,18q23qter(RP11-89N1→RP5-964M9)x1
arr cgh 17p11.2p11.2(RP11-416I2→RP11-363P3)x3
R/O Any Chromosome abnormality
5
3.4-3.7
132
1Mb
R/O Any Chromosome abnormality
5, 18
2.2-2.6, 23.7-27.6
133
Const
arr cgh 9pterp24.1(RP1-43N6→RP11-125B21)x1,16q21qter(RP11154N7→RP1-191P24)x3
arr cgh 9q34.3qter(RP11-432J22→CTB-135I17)x1
5
2.2-20.0
134
Combo
arr cgh 12q24.2q24.31(RP11-91M21→RP11-87C12)x3
7
7.7-9.1
135
1Mb
arr cgh 21q11.2q21.1(153I22→RP11-89M24)x1
Multiple Congenital Anomalies,
Developmental Delay
Extra material on chromosome 12 at
12q24.33
R/O Any Chromosome abnormality
2
0.8-3.6
136
Combo
arr cgh 1p34.3p34.3(RP1-34M23→RP5-1090E8)x3
3
2.7-3.5
137
Const
arr cgh 1pterp36.11(RP11-671C15→RP5-888M10)x1
Autism, dysmorphic features, submucous left
palate
R/O Any Chromosome abnormality
6
12.5-33.2
138
Combo
arr cgh 22q11.21q11.21(RP3-493F17→RP11-316L10)x3mat
4
1.0-6.5
139
1Mb
arr cgh 7q11.23q11.23(B315H11→RP11-137E8)x3
Multiple Congenital Anomalies,
Developmental delay
R/O Any Chromosome abnormality
3
1.8-2.0
140
Const
arr cgh 18q23qter(RP11-90L3→GS-964-M9)x1
R/O Any Chromosome abnormality
5
2.6-11.0
141
Combo
arr cgh 1p36.33p35.21(RP11-421C4→RP5-864I18)x1
R/O Any Chromosome abnormality
18
13.8-14.8
142
Combo
R/O Any Chromosome abnormality
5
0.6-1.4
143
Combo
arr cgh 9q34.3qter(RP11-48C7→CTB-135I17)x1,10q21(RP1179A2)x1
arr cgh 7q36.2qter(RP11-43L19→RP4-764O12)x1
46,XY,add(7)(q36)
6
7.0-10.2
144
Combo
arr cgh 2q23.2q33(RP11-192M8→RP11-89J16)x1
R/O Any Chromosome abnormality
8
6.8-9.1
145
1Mb
R/O Any Chromosome abnormality
3, 20
3.0-5.1, 19.2-20.1
146
Combo
arr cgh 15q11.2q12(RP11-80H14→RP11339C21)x3,15q25q26.3(RP11-152F13→RP1154P1)x3,15q26.3qter(RP1-124O5)x1
arr cgh 22q11.21q11.21(RP3-493F17→RP11-316L10)x1
R/O Any Chromosome abnormality
4
1.0-6.5
147
Combo
arr cgh Xp22.3p22.3(RP11-294K6→RP11-143E20)x2
R/O Any Chromosome abnormality
4
1.3-2.3
148
Combo
arr cgh 22q11.21q11.21(RP3-493F17→RP11-186O8)x1
Cleft lip palate, Multiple congenital anomalies
4
0.1-2.8
149
Const
arr cgh 22q11.21q11.21(RP3-493F17→RP11-316L10)x3
R/O Any Chromosome abnormality
4
1.0-6.5
150
Combo
Chromosome 8 abnormality
17, 18
6.8-8.0, 8.8-9.3
151
Combo
arr cgh 4pterp16.1(GS-36-P21→RP11-326F6)x3,8pterp23.1(RP4580L5→RP11-90J21)x1
arr cgh 1pterp36.33(RP11-671C15→RP11-547D24)x1
Multiple Congenital Anomalies, Microcephaly
7
1.2-2.9
152
Combo
R/O Any Chromosome abnormality
11, 7
4.0-5.8, 3.0-7.3
1Mb
arr cgh 6pterp25(GS-196-I5→RP11-91F13)x3,18q23qter(RP11707P24→RP5-964M9)x1
arr cgh 17pterp13.3(CTB-68F18→RP11-216P6)x1dn
153
Hypotonia, Developmental delay
7
10.9-1.7
154
Combo
arr cgh 3q29qter(RP11-313F11→CTB-56H22)x3
Developmental delay
5
1.6-2.7
155
Combo
arr cgh 17p11.2p11.2(RP11-416I2→RP11-363P3)x1
Developmental delay
5
3.4-3.6
156
1Mb
arr cgh 8p23.1p23.1(RP11-18L2→RP11-80B8)x1
Congenital Heart Defect
7
3.2-6.3
157
1Mb
arr cgh Xp22.31p22.31(RP11-294K6→RP11-143E20)x2
R/O Any Chromosome abnormality
2
1.3-2.4
158
Combo
Large Cllitoris, Dysmorphic Features
84, 103
p arm x1; q arm x3
159
Const
arr cgh Xpterp11.21(LLNOYCO3M15D10→RP3323P24)x1,Xp11.1qter(ICRFC100G11100→CTC-225F6)x3
arr cgh 17p12p12(RP11-78J16→RP11-726O12)x1
R/O Any Chromosome abnormality
7
1.3-1.5
160
Combo
arr cgh 10q25.1q25.1(RP11-432B10→RP11-271I13)x1
R/O Any Chromosome abnormality
4
2.4-5.3
161
Combo
arr cgh 7q22q22(RP11-80L6→RP11-72J24)x1
Developmental delay, Obesity
3
1.9-4.9
162
1Mb
Multiple Congenital Anomalies
12, 3
8.4-10.7, 1.3-6.5
163
Combo
R/O Any Chromosome abnormality
11
8.9-14.6
164
Const
arr cgh 1pterp36.22(RP1-62I8→RP11476D13)x1,11pterp15.5(RP5-908H22→RP11-371C18)x3
arr cgh Xp22.33p11.21(LLNOYCO3M15D10→RP11344I7)x1,Xq11q13.1(RP11-90N17→RP11523P2)x2,Xq13.1q28(RP13-260P4→GS-225-F6)x1
arr cgh 9q34.3qter(RP11-216L13→GS-135-I17)x1
R/O Any Chromosome abnormality
4
1.4-2.2
165
1Mb
arr cgh 16q13q21(RP11-250E14→RP11-3I14)x1
7
5.4-10.8
166
Const
arr cgh 7q36.3qter(GS-3-K23→RP4-764O12)x1
Short Stature, Dysmorphic Features, Mental
Retardation
R/O Any Chromosome abnormality
2
0.1-20.9
167
Combo
Chromosome Abnormality, Additional
Material on 13q
12
12.6-14.3
168
1Mb
arr cgh 13q21.3q22.3(RP11-37I8→RP11226E21)x3,13q32q33(RP11-79A16→RP11381O6)x3,13q33qter(RP11-330C15→RP1-1L16)x1
arr cgh 22q11.21q11.21(RP11-186O8→RP11-316L10)x1
Multiple Congenital Anomalies, Priority
2
0.1-2.8
169
Combo
Heart Defect and Colpocephaly, Priority
14, 4
8.8-9.3, 0.2-0.9
170
1Mb
arr cgh 6q26qter(RP1-119H20→RP1191N21)x1,16pterp13.3(RP11-344L6→RP11-121I4)x3
arr cgh 4q32.1q32.2(RP11-81P7→RP11-10O3)x1
Failure to thrive, Vomiting
2
1.9-5.7
171
1Mb
arr cgh 12p13.1p12.3(RP11-59H1→RP11-1018J8)x1
22q11
5
2.5-4.3
172
1Mb
arr cgh Xq21.2q21.33(RP11-156J23→RP11-465C5)x0
Pseudo Brock Syndrome, Priority
4
1.3-2.6
173
Combo
arr cgh 7q11.23q11.23(B315H11→RP11-137E8)x1
Developmental delay
12
1.8-2.0
174
1Mb
arr cgh 6q13q14.2(RP11-28P18→RP4-747H23)x1
13
9.0-10.9
175
Const
arr cgh Xpterp22.31(LLNOYCO3M15D10→RP11315B16)x2,Xp22.31p22.31(RP11-483M24→RP11143E20)x1,Xp22.31qter(RP11-589J20→GS-225-
Multiple Congenital Anomalies, Hypotonia,
Hearing loss
Developmental delay
3
0.8-3.8
F6)x2,Ypterqter(RP11-400O10→RP11-79J10)x2
176
Combo
arr cgh 1pterp36.2(RP11-67C15→RP1-163G9)x1
46,XX,del1p36.3, Severe obesity, Mental
Retardation
Dysmorphic Features
9
2.3-4.2
177
Combo
arr cgh 1q41q42(RP11-239E10→RP11-1090A23)x3
2
2.6-6.7
178
1Mb
arr cgh 17q11.2q12(RP11-73F15→RP11-19G24)x1
6
6.5-10.4
arr cgh 12pterp11.1(RP11-598F7→RP11-460N10)x3
Developmental delay, Dysmorphic Features,
Hypotonia
Dysmorphic Features
179
Combo
44
entire p arm
180
1Mb
arr cgh 4p15.3p15.1(RP11-88B22→RP11-81N11)x1
Short Stature
8
12.8-16.6
181
Combo
chromosome abnormal, dup 9
19, 27
12.6-12.9, 23.9-57.8
182
Combo
arr cgh 9pterp22.3(RP1-43N6→RP11328C23)x1,9p22.1p12(RP11-328H24→RP11-12P15)x3
arr cgh 5q35.1qter(RP11-606E24→RP1240G13)×1,18q22.3qter(RP11-57F7→RP11-89N1)×3
Multiple Congenital Anomalies
8, 7
4.4-4.8, 9.3-11.0