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
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