|
| No. | Clinical feature | Age | Gender | CMA results | Sizes of CNVs (kb) | Copy number | Syndromes | OMIM gene | Inherited or de novo |
|
| 1 | ID | 17 y | F | arr[GRCh37] 12p12.1(21369190_25634175)x1 | 3995 | Loss | Lamb-Shaffer syndrome | SOX5 | de novo |
| 2 | DD | 3 y | F | arr[GRCh37] 4p16.3p16.1(68345_8066350)x1 | 7998 | Loss | Wolf–Hirschhorn syndrome | | de novo |
| 3 | ID | 5 y | M | arr[GRCh37] 7q11.23(72723370_74136633)x1 | 1413 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 4 | DD | 4 y | M | arr[GRCh37] Xq28(153118233_153878720)x2 | 760 | Gain | Xq28 (MECP2) duplication | MECP2 | Inherited from normal mother |
| 5 | ID | 5 y | M | arr[GRCh37] 15q11.2q26.3(22817870_102397317)hmz | 79,579 | LOH (paternal UPD15) | Angelman syndrome | UBE3A | de novo |
| 6 | DD | 4 y | M | arr[GRCh37] 7q11.23(72718123_74136633)x1 | 1419 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 7 | DD | 19 m | M | arr[GRCh37] 15q11.2q13.1(23632677_28704050)x1 | 5071 | Loss | Angelman syndrome | UBE3A | de novo |
| 8 | ID | 16 y | F | arr[GRCh37] 7q11.23(72718123_74141494)x1 | 1423 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 9 | DD | 16 m | M | arr[GRCh37] 11p11.2(44506359_47897669)x1 | 3391 | Loss | Potocki–Shaffer syndrome | MYBPC3 | de novo |
| 10 | ID | 6 y | M | arr[GRCh37] 15q11.2q13.1(23290787_28526905)x1 | 5147 | Loss | Angelman syndrome | UBE3A | de novo |
| 11 | ID | 7 y | M | arr[GRCh37] Xq28(153030708_155233098)x2 | 2202 | Gain | Xq28 (MECP2) duplication | MECP2 | Inherited from normal mother |
| 12 | ID | 16 y | F | arr[GRCh37] 15q11.2q26.3(22817870_102397317)hmz | 79,579 | LOH (paternal UPD15) | Angelman syndrome | UBE3A | de novo |
| 13 | ID | 6 y | M | arr[GRCh37] 7q11.23 (72611954_75147402)x1 | 1745 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 14 | ID | 5 y | M | arr[GRCh37] 16p13.3(85880_2045435)x1 | 1960 | Loss | ATR-16 syndrome | | de novo |
| 15 | DD | 17 m | F | arr[GRCh37] 7q11.23(72692112_74184702)x1 | 1496 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 16 | ID | 16 y | F | arr[GRCh37] 22q13.33(50974299_51197766)x1 | 223 | Loss | 22q13 deletion syndrome (Phelan–Mcdermid syndrome) | SHANK3 | de novo |
| 17 | ID | 9 y | F | arr[GRCh37] 17p11.2 (16761814_20304118)x3 | 3542 | Gain | Potocki–Lupski syndrome (17p11.2 duplication syndrome) | | de novo |
| 18 | DD | 9 m | F | arr[GRCh37] 7q11.23(72723370_74136633)x1 | 1413 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 19 | ID | 6 y | F | arr[GRCh37] 22q13.31q13.33(48234841_51197766)x1 | 2963 | Loss | 22q13 deletion syndrome (Phelan–Mcdermid syndrome) | SHANK3 | de novo |
| 20 | DD | 13 m | F | arr[GRCh37] 22q11.21(18919477_21436003)x3 | 2516 | Gain | 22q11 duplication syndrome | | de novo |
| 21 | ID | 9 y | M | arr[GRCh37] 7q11.23(72723370_74136633)x1 | 1413 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 22 | ID | 12 y | M | arr[GRCh37] 16p13.11(14892975_16538596)x3 | 1646 | Gain | 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) | | Inherited from normal mother |
| 23 | ID | 5 y | F | arr[GRCh37] 15q11.2q13.1(22770421_28560664)x3 | 5790 | Gain | 15q11-q13 duplication syndrome | | Inherited from normal mother |
| 24 | ID | 17 y | F | arr[GRCh37] 15q11.2q13.1(22770421_28526905)x3 | 5756 | Gain | 15q11-q13 duplication syndrome | | Inherited from normal mother |
| 25 | DD | 13 m | F | arr[GRCh37] 5q23.3q31.2(129203365_139475046)x3 | 10,272 | Gain | | | de novo |
| 26 | ID | 16 y | F | arr[GRCh37] 8p23.3p23.1(158048_9781509)x1 | 9623 | Loss | 8p23.1 deletion syndrome | CSMD1 | de novo |
| 27 | ID | 9 y | F | arr[GRCh37] 7q36.1q36.3(151376795_159119707)x1 | 7743 | Loss | | SHH; KMT2C; DPP6; MNX1 | de novo |
| 28 | DD | 3 y | M | arr[GRCh37] 1q43q44(239750391_249224684)x1 | 9474 | Loss | 1q43-q44 deletion syndrome | CHRM3; AKT3; HNRNPU | de novo |
| 29 | ID | 12 y | M | arr[GRCh37] 3q23q25.1(141486765_151354816)x1 | 9868 | Loss | | ZIC1; ZIC4 | de novo |
| 30 | DD | 4 y | F | arr[GRCh37] 18p11.32p11.21(136227_12342194)x1 | 12,206 | Loss | | TGIF1 | de novo |
| 31 | ID | 16 y | F | arr[GRCh37] 11q24.2q25(124419306_134937416)x1 | 10,518 | Loss | | | de novo |
| 32 | ID | 17 y | F | arr[GRCh37] 3q27.3q29(187068732_194767726)x1 | 7699 | Loss | | TP63; FGF12 | de novo |
| 33 | DD | 8 m | M | arr[GRCh37] 10q26.13q26.3(123584147_135426386)x1 | 11,842 | Loss | | EBF3 | de novo |
| 34 | DD | 3 y | M | arr[GRCh37] 11q14.1(77492774_85312824)x1 | 7820 | Loss | | DLG2 | de novo |
| 35 | DD | 4 y | M | arr[GRCh37]Mosaic 15q14q24.1(35050247_75972909)x1.63 | 40,923 | Loss (Mosaic) | 15q24 recurrent microdeletion syndrome | | de novo |
| 36 | DD | 4 y | M | arr[GRCh37] 1q42.13q44(228801122_249181598)x3 | 20,380 | Gain | | | de novo |
| 37 | ID | 6 y | M | arr[GRCh37] 1q42.13q44(229917977_249224684)x3 | 19,307 | Gain | | | de novo |
| 38 | DD | 3 y | F | arr[GRCh37] 12p13.33q12(173786_40931729)x3 | 40,758 | Gain | Partial chromosome 12
trisomy | | de novo |
| 39 | ID | 8 y | M | arr[GRCh37] Xp21.3p11.23(27954516_48270449)x1 | 20,316 | Loss | Xp11.23 region (includes MAOA and MAOB) | | de novo |
| 40 | ID | 10 y | F | arr[GRCh37] 18q21.32q23(58617060_78013728)x1 | 19,847 | Loss | | | de novo |
| 41 | ID | 16 y | F | arr[GRCh37] 11q14.2q22.3(87455736_109777755)x1 | 22,322 | Loss | | | de novo |
| 42 | DD | 4 y | F | arr[GRCh37] 4p16.3p15.31(290685_18118492)x3 | 17,828 | Gain | 4p16.3 terminal (Wolf–Hirschhorn syndrome) region | | de novo |
| | | | | arr[GRCh37] 4q34.1q35.2(176152080_190957460)x1 | 14,805 | Loss | | | |
| 43 | DD | 3 y | M | arr[GRCh37] 8p23.3p23.1(158048_10915395)x3 | 10,757 | Gain | 8p23.1 duplication syndrome | SOX7 | de novo |
| | | | | arr[GRCh37] 9p24.3p24.1(208454_6308953)x1 | 6100 | Loss | | DMRT1 | |
| 44 | ID | 8 y | M | arr[GRCh37] 4p16.3p16.1(68345_9514461)x3 | 9446 | Gain | 4p16.3 terminal (Wolf–Hirschhorn syndrome) region | | Paternal balanced
translocation 46,XY,t(4; 8) (p16q23) |
| | | | | arr[GRCh37] 8p23.3p23.1(158048_7044046)x1 | 6886 | Loss | | CSMD1 | |
| 45 | ID | 17 y | F | arr[GRCh37] 9p24.3p24.1(208454_8748943)x3 | 8540 | Gain | | | de novo |
| | | | | arr[GRCh37] 18q22.1q23(65906752_78013728)x1 | 12,107 | Loss | | | |
| 46 | ID | 3 y | M | arr[GRCh37] 6q27(169727875_170914297)x3 | 1186 | Gain | | | de novo |
| | | | | arr[GRCh37] 13q33.3q34(107636085_115107733)x1 | 7472 | Loss | | CHAMP1; BSVD2 | |
| 47 | ID | 17 y | M | arr[GRCh37] 11q25(131001110_134937416)x1 | 3936 | Loss | | | Maternal balanced
translocation 46,XX,t(11; 18) (q25; q21.2) |
| | | | | arr[GRCh37] 18q21.2q23(50912872_78013728)x3 | 27,101 | Gain | | | |
| 48 | ID | 16 y | F | arr[GRCh37] 9p24.3p21.1(208454_30555044)x3 | 30,347 | Gain | | | Paternal balanced
translocation 46,XY,t(9; 18) (p21; p11.3) |
| | | | | arr[GRCh37] 18p11.32p11.31(136227_5485196)x1 | 5349 | Loss | | TGIF1 | |
| 49 | ID | 7 y | M | arr[GRCh37] 3p26.3p26.1(61891_5189701)x1 | 5128 | Loss | | CNTN4; CNTN6; ITPR1 | de novo |
| | | | | arr[GRCh37] 7q33q36.3(134287922_159119707)x3 | 24,832 | Gain | | SHH | |
| 50 | DD | 3 y | F | arr[GRCh37] 6q25.3q27(159131590_170914297)x3 | 11,783 | Gain | | | Maternal balanced
translocation 46,XX,t(6; 10) (q25.3; p15.3) |
| | | | | arr[GRCh37] 10p15.3(100047_1947393)x1 | 1847 | Loss | | ZMYND11 | |
| 51 | ID | 16 y | F | arr[GRCh37] 9p24.3p13.3(208454_33702198)x3 | 33,494 | Gain | | | de novo |
| | | | | arr[GRCh37] 19p13.3(260911_1247822)x1 | 987 | Loss | | | |
| 52 | DD | 3 y | M | arr[GRCh37] 12q12(44719567_46210900)x1 | 1491 | Loss | | ARID2 | de novo |
| 53 | ID | 7 y | F | arr[GRCh37] Xq27.3q28(145269560_149282242)x1 | 4013 | Loss | | FMR1; AFF2; IDS | de novo |
| 54 | DD | 4 y | M | arr[GRCh37] 2q22.3(144457537_145255844)x1 | 798 | Loss | | ZEB2 | de novo |
| 55 | ID | 16 y | M | arr[GRCh37] Xq28(154476199_155233098)x1 | 759 | Loss | | RAB39B | Inherited from normal mother |
| 56 | ID | 10 y | M | arr[GRCh37] 8p11.22(38344498_39172014)x3 | 8575 | Gain | | | de novo |
| 57 | ID | 10 y | M | arr[GRCh37] 1p36.33p36.32(1156338_2468052)x1 | 1302 | Loss | | GNB1; GABRD | de novo |
| 58 | ID | 14 y | F | arr[GRCh37] 9q34.11(131231815_132005416)x1 | 774 | Loss | | SPTAN1 | de novo |
| 59 | ID | 17 y | F | arr[GRCh37] 6q27(169471201_170914297)x1 | 1443 | Loss | | ERMARD; TBP | de novo |
| 60 | ID | 12 y | F | arr[GRCh37] 1p36.33p36.32(849466_2516031)x1 | 1667 | Loss | | GNB1; GABRD | de novo |
| 61 | DD + MCA (short status) | 3 y | M | arr[GRCh37] Xp11.22(53359258_53647606)x2 | 288 | Gain | Xp11.22-linked intellectual disability | HUWE1 | Inherited from normal mother |
| 62 | DD + MCA (microtia, cleft palate, ventricular septal defect) | 8 m | F | arr[GRCh37] 4p16.3(68345_3488721)x1 | 3420 | Loss | Wolf–Hirschhorn syndrome | | de novo |
| 63 | DD + MCA (facial dysmorphism, supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis) | 11 m | M | arr[GRCh37] 7q11.23(72718123_74136633)x1 | 1419 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 64 | ID + MCA (facial dysmorphism, short status) | 6 y | M | arr[GRCh37] 17p11.2(16657318_20287758)x1 | 3630 | Loss | Smith–Magenis syndrome | RAI1; FLCN | de novo |
| 65 | DD + MCA (facial dysmorphism, short status) | 9 m | M | arr[GRCh37] 7q11.23(72697461_74136633)x1 | 1439 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 66 | ID + MCA (facial dysmorphism, short status) | 16 y | F | arr[GRCh37] 17p11.2(16736261_20417235)x1 | 3681 | Loss | Smith–Magenis syndrome | RAI1; FLCN | de novo |
| 67 | ID + MCA (facial dysmorphism, cleft palate, short status) | 6 y | F | arr[GRCh37] 7q11.23(72713282_74154209)x1 | 1441 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 68 | DD + MCA (facial dysmorphism, muscular hypotonia) | 2 y | F | arr[GRCh37] 7p22.3p11.1(50943_58019983)hmz | 57,969 | LOH (maternal UPD7) | Silver–Russell syndrome | | de novo |
| 69 | ID + MCA (ventricular septal defect) | 5 y | F | arr[GRCh37] 15q11.2q13.1(22770421_28704050)x1 | 5934 | Loss | Prader–Willi syndrome | UBE3A | de novo |
| 70 | DD + MCA (facial dysmorphism, short status) | 16 m | M | arr[GRCh37] 7q11.23(72697239_74136633)x1 | 1439 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 71 | DD + MCA (facial dysmorphism, hypoplasia of the corpus callosum, ventricular septal defect, short status) | 9 m | M | arr[GRCh37] 17p13.3(525_2780094)x1 | 2780 | Loss | Miller–Dieker syndrome | PAFAH1B1 | de novo |
| 72 | DD + MCA (facial dysmorphism, supravalvular aortic stenosis (SVAS), ventricular septal defect) | 9 m | M | arr[GRCh37] 7q11.23(72713282_74136633)x1 | 1423 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 73 | DD + MCA (muscular hypotonia, dysphagia, cryptorchidism) | 3 m | M | arr[GRCh37] 15q11.2q13.1(23290787_28540345)x1 | 5250 | Loss | Prader–Willi syndrome | UBE3A | de novo |
| 74 | DD + MCA (triangular shaped face, short status, body asymmetry) | 13 m | F | arr[GRCh37] 7p22.3p11.1(50943_58019983)hmz | 57,969 | LOH (maternal UPD7) | Silver–Russell syndrome | | de novo |
| 75 | DD + MCA (facial dysmorphism, cafe-au-lait spots, atrial septal defect) | 18 m | M | arr[GRCh37] 17q11.2(29025996_30369402)x1 | 1343 | Loss | NF1-microdeletion syndrome | NF1 | de novo |
| 76 | ID + MCA (facial dysmorphism, short status) | 13 y | F | arr[GRCh37] 5p15.33p15.31(113576_9756329)x1 | 9643 | Loss | Cri du chat syndrome (5p deletion) | | de novo |
| 77 | ID + MCA (facial dysmorphism, brachydactyly) | 9 y | F | arr[GRCh37] 2q37.3(239755969_242782258)x1 | 3026 | Loss | 2q37 monosomy | HDAC4 | de novo |
| 78 | DD + MCA (hypertelorism, overgrowth) | 5 m | F | arr[GRCh37] 15q24.3q26.3(78160033_102429040)x3 | 24,269 | Gain | 15q26 overgrowth syndrome | | Paternal balanced
translocation 46,XY,t(3; 15) (p26; q24) |
| | | | | arr[GRCh37] 3p26.3(61891_1542088)x1 | 1480 | Loss | | CNTN6 | |
| 79 | DD + MCA (facial dysmorphism, esophageal atresia, external auditory canal atresia) | 7 m | M | arr[GRCh37] 22q13.31q13.33(48283717_51197766)x1 | 2914 | Loss | 22q13 deletion syndrome (Phelan–Mcdermid syndrome) | SHANK3 | de novo |
| | | | | arr[GRCh37] 9q34.2q34.3(136244652_141018648)x3 | 4774 | Gain | | EHMT1 | |
| 80 | ID + MCA (atrial septal defect, cleft palate, hearing impairment) | 5 y | M | arr[GRCh37] 22q11.1q11.21(16888899_20716903)x3 | 3828 | Gain | Cat eye syndrome | | Maternal balanced translocation 46,XX,t(11; 22) (q23.3; q11.2) |
| | | | | arr[GRCh37] 11q23.3q25(116683754_134937416)x3 | 18,254 | Gain | | | |
| 81 | DD + MCA (polysyndactyly) | 7 m | M | arr[GRCh37] 16p11.2(29351825_30176508)x1 | 825 | Loss | 16p11.2 recurrent microdeletion | | de novo |
| 82 | DD + MCA (triangular shaped face, short status, muscular hypotonia) | 14 m | F | arr[GRCh37] 7p22.3p11.1(50943_58019983)hmz | 57,969 | LOH (maternal UPD7) | Silver–Russell syndrome | | de novo |
| 83 | ID + MCA (atrial septal defect, ventricular septal defect) | 9 y | M | arr[GRCh37] 22q11.21(18648855_21800471)x1 | 3152 | Loss | 22q11 deletion syndrome (velocardiofacial/DiGeorge syndrome) | TBX1 | de novo |
| 84 | DD + MCA (short status) | 3 y | M | arr[GRCh37] 15q11.2q13.1(23290787_28928730)x1 | 5638 | Loss | Angelman syndrome | UBE3A | de novo |
| 85 | ID + MCA (congenital heart disease, polysyndactyly) | 16 y | F | arr[GRCh37] 22q11.21(18648855_21800471)x1 | 3152 | Loss | 22q11 deletion syndrome (velocardiofacial/DiGeorge syndrome) | TBX1 | de novo |
| 86 | DD + MCA (facial dysmorphism) | 13 m | M | arr[GRCh37] 16p13.11(14913788_16282869)x3 | 1369 | Gain | 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) | | Inherited from normal mother |
| 87 | DD + MCA (muscular hypotonia, ventricular septal defect, cryptorchidism) | 3 m | M | arr[GRCh37] 15q11.2q13.1(23290787_28540345)x1 | 5250 | Loss | Prader–Willi syndrome | UBE3A | de novo |
| 88 | DD + MCA (cleft palate) | 3 y | M | arr[GRCh37] 16p11.2(29428531_30176508)x1 | 748 | Loss | 16p11.2 recurrent microdeletion | | de novo |
| 89 | ID + MCA (facial dysmorphism, cleft palate, polysyndactyly, short status) | 11 y | M | arr[GRCh37] 17q21.31q21.32(43170339_44988790)x1 | 1818 | Loss | 17q21.31 recurrent microdeletion syndrome (Koolen–de Vries syndrome) | KANSL1 | de novo |
| 90 | ID + MCA (short status) | 9 y | F | arr[GRCh37] 22q11.21(18648855_21800471)x1 | 3169 | Loss | 22q11 deletion syndrome (velocardiofacial/DiGeorge syndrome) | TBX1 | de novo |
| 91 | DD + MCA (cleft palate) | 3 y | F | arr[GRCh37] 16p13.11(15481747_16390970)x3 | 909 | Gain | 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) | | de novo |
| 92 | ID + MCA (cleft palate) | 13 y | F | arr[GRCh37] 15q11.2q13.1(23281885_28526905)x3 | 5245 | Gain | 15q11-q13 duplication syndrome | | Inherited from normal mother |
| | | | | arr[GRCh37] 16p11.2(29428531_30176508)x1 | 748 | Loss | 16p11.2 recurrent microdeletion | | Inherited from normal father |
| 93 | DD + MCA (facial dysmorphism, catlike cry, ventricular septal defect, short status) | 3 m | F | arr[GRCh37] 5p15.33p13.3(113576_32114177)x1 | 32,001 | Loss | Cri du chat syndrome (5p deletion) | TRIO; CTNND2 | de novo |
| 94 | DD + MCA (short status) | 11 m | F | arr[GRCh37] Xp22.33p22.31(168551_8030262)x1 | 7862 | Loss | Leri–Weill dyschondrosteosis (LWD): SHOX deletion | SHOX; ARSE | de novo |
| 95 | ID + MCA (cleft palate) | 6 y | F | arr[GRCh37] 7q11.23(72692112_74154209)x1 | 1462 | Loss | Williams-Beuren syndrome | ELN | de novo |
| 96 | ID + MCA(micrognathia) | 16 y | F | arr[GRCh37] 8p23.3p23.1(158048_10029980)x1 | 9872 | Loss | 8p23.1 deletion syndrome | CSMD1 | de novo |
| 97 | ID + MCA (atrial septal defect, microtia, polysyndactyly) | 7 y | M | arr[GRCh37] 5q34q35.3(162638031_180329359)x3 | 17,691 | Gain | 5q35 recurrent (Sotos syndrome) region (includes NSD1) | FBXW11 | Maternal balanced
translocation 46,XX,t(5; 12) (q34; p13.32) |
| | | | | arr[GRCh37] 12p13.33p13.32(173786_4264694)x1 | 4091 | Loss | 12p13.33 microdeletion syndrome | | |
| 98 | DD + MCA (cryptorchidism, short status) | 19 m | M | arr[GRCh37] 4q34.1q35.2(174352834_190957460)x3 | 16605 | Gain | | | de novo |
| | | | | arr[GRCh37] Xp22.33p22.31(168551_6455151)x0 | 6287 | Loss | Leri–Weill dyschondrosteosis (LWD): SHOX deletion | SHOX; ARSE | |
| 99 | DD + MCA (gallbladder agenesis) | 3 y | F | arr[GRCh37] 8p23.3p23.1(158048_7044046)x1 | 6686 | Loss | | CSMD1 | de novo |
| | | | | arr[GRCh37] 8p23.1p12(11936000_33616243)x3 | 21,860 | Gain | | | |
| 100 | ID + MCA (atrial septal defect, hypermyotonia) | 6 y | M | arr[GRCh37] 2p23.1p22.1(32046639_38823958)x1 | 6777 | Loss | | SPAST | de novo |
| 101 | DD + MCA (hypoplasia of the corpus callosum) | 3 m | F | arr[GRCh37] 13q33.2q34(106348324_115107733)x1 | 8759 | Loss | | CHAMP1; BSVD2 | de novo |
| 102 | ID + MCA (micrognathia, polysyndactyly) | 14 y | F | arr[GRCh37] 18p11.32q11.2(136227_20989843)x3 | 20,854 | Gain | | | Maternal balanced
translocation 46,XX,t(18; 21) (q11.2; q21) |
| | | | | arr[GRCh37] 21q11.2q21.1(15016486_20371429)x1 | 5355 | Loss | | | |
| 103 | DD + MCA (hypermyotonia, blepharophimosis) | 3 m | M | arr[GRCh37] 3q22.1q23(132876177_139772196)x1 | 6896 | Loss | | FOXL2 | de novo |
| 104 | DD + MCA (facial dysmorphism) | 8 m | F | arr[GRCh37] 10p15.3p12.2(100047_23162330)x3 | 23,062 | Gain | | | Paternal inversion 46,XY,inv(10) (p12q26) |
| | | | | arr[GRCh37] 10q26.3(134248768_135426386)x1 | 1178 | Loss | | | |
| 105 | DD + MCA (ventricular septal defect, aortic stenosis) | 21 m | M | arr[GRCh37] 7p21.1p11.2(16641066_56373573)x3 | 39,733 | Gain | | | de novo |
| | | | | arr[GRCh37] 4q13.1q13.2(65818383_68116457)x1 | 2298 | Loss | | | |
| 106 | DD + MCA (facial dysmorphism, cryptorchidism) | 3 y | M | arr[GRCh37] 3q13.33q25.1(121200603_151876470)x3 | 30,676 | Gain | | | de novo |
| 107 | ID + MCA (facial dysmorphism) | 3 y | M | arr[GRCh37] 14q12(28897081_31268243)x1 | 2371 | Loss | Rett syndrome | FOXG1 | de novo |
| 108 | DD + MCA (atrial septal defect) | 14 m | F | arr[GRCh37] 20p13(61661_2150330)x1 | 2089 | Loss | | CSNK2A1; PDYN | de novo |
| 109 | DD + MCA (facial dysmorphism, overgrowth, body asymmetry) | 2 y | F | arr[GRCh37] Xq21.31q27.3(86577241_145860589)x3 | 59,283 | Gain | Pelizaeus–Merzbacher disease (carrier) | PLP1 | de novo |
| 110 | DD + MCA (cryptorchidism, hypospadias) | 3 m | M | arr[GRCh37] 5p14.3p12(19454082_45506818)x3 | 26,053 | Gain | | | de novo |
| 111 | DD + MCA (facial dysmorphism, bilateral single transverse palmar creases) | 3 m | F | arr[GRCh37] 9p24.3q13(208454_68216577)x3 | 10,188 | Gain | Chromosome 9p trisomy | | de novo |
| 112 | ID + MCA (facial dysmorphism, webbed neck, low-set ears) | 5 y | F | arr[GRCh37] Xp22.33p11.22(168551_52706689)x1 | 52,538 | Loss | | | de novo |
| | | | | arr[GRCh37] Xp11.22q28(52833230_155233098)x3 | 102,400 | Gain | | | |
| 113 | ID + ASD | 13 y | F | arr[GRCh37] 17p11.2(16657318_20463423)x1 | 3806 | Loss | Smith–Magenis syndrome | RAI1; FLCN | de novo |
| 114 | DD + ASD | 3 y | M | arr[GRCh37] 17p11.2 (16745600_20417235)x3 | 3672 | Gain | Potocki–Lupski syndrome (17p11.2 duplication syndrome) | | de novo |
| 115 | ID + ASD | 10 y | M | arr[GRCh37] 2q37.2q37.3(235790877_242782258)x1 | 6991 | Loss | 2q37 monosomy | HDAC4 | Paternal inversion 46,XY,inv(2) (p24q37.2) |
| | | | | arr[GRCh37] 2p25.3p24.3(12770_12658812)x3 | 12,646 | Gain | | | |
| 116 | ID + epilepsy (ichthyosis) | 12 y | M | arr[GRCh37] Xp22.31(6455151_8141076)x0 | 1686 | Loss | Steroid sulphatase deficiency (STS) | STS | Inherited from normal mother |
| 117 | ID + epilepsy | 8 y | M | arr[GRCh37] 15q11.2q13.1(22770421_28704050)x1 | 5934 | Loss | Angelman syndrome | UBE3A | de novo |
| 118 | DD + epilepsy | 3 y | F | arr[GRCh37] 16p13.12p13.11(14777379_16533107)x1 | 1756 | Loss | 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) | | de novo |
| 119 | ID + epilepsy | 6 y | M | arr[GRCh37] 15q11.2q13.1(23620191_28526905)x1 | 4907 | Loss | Angelman syndrome | UBE3A | de novo |
| 120 | DD + epilepsy | 3 y | F | arr[GRCh37] 16p11.2(28557432_30176508)x1 | 1619 | Loss | 16p11.2 microduplication syndrome | SH2B1 | de novo |
| 121 | DD + epilepsy | 11 m | F | arr[GRCh37] 20q13.33(61485437_62790113)x1 | 1305 | Loss | | CHRNA4; KCNQ2 | de novo |
| 122 | ID + epilepsy | 5 y | F | arr[GRCh37] 13q33.3q34(108237906_115107733)x1 | 6870 | Loss | | CHAMP1; BSVD2 | de novo |
| 123 | DD + epilepsy | 4 y | F | arr[GRCh37] Xq23q24(111170674_117964845)x1 | 6794 | Loss | | | de novo |
| 124 | ID + epilepsy | 8 y | M | arr[GRCh37] Xp22.13p21.3(17125886_28993521)x2 | 11,868 | Gain | | | de novo |
| 125 | ID + epilepsy | 6 y | M | arr[GRCh37] 2p24.3p24.2(15850097_16790467)x1 | 940 | Loss | | MYCN | de novo |
| 126 | ID + epilepsy | 3 y | M | arr[GRCh37] 2q24.3(164444391_168745074)x1 | 4301 | Loss | | SCN1A; SCN2A; SCN9A | de novo |
| 127 | ID + epilepsy | 6 y | M | arr[GRCh37] 1p36.33(849466_2226509)x1 | 1377 | Loss | | GNB1; GABRD | de novo |
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