Table 2.
Pathogenic CNVs found in the cohort.
| Case | CNV | Microarray Nomenclature | Size (Kbp) | N° of Genes | Some of the Relevant Genes | Phenotype | Gender/other info | Inheritance | Karyotype | Syndrome |
|---|---|---|---|---|---|---|---|---|---|---|
| #9 | Del | arr[hg19] 13q33.1q34(104,782,510–112,352,804)x1 | 7.570 | 26 | COL4A2, DAOA- | DD, LDO, FD, low weight, microcephaly and mot dif | M/− | ND | — | |
| #15 | Del | arr[hg19] 16p11.2(28,689,085–29,043,863)x1 | 355 | 18 | SH2B1 | DD, Aut | M/Affected brother (#16) | ND | distal 16p11.2 deletion syndrome | |
| #16 | Del | arr[hg19] 16p11.2(28,689,085–29,388,495)x1 | 362 | 18 | SH2B1 | DD, Aut | M/Affected brother (#15) | ND | distal 16p11.2 deletion syndrome | |
| #18 | Del | arr[hg19] 6q15-q21(93,082,925–110,504,681)x1 | 17.422 | 66 | SIM1, SEC. 63 | DD, CA, FD, SLD | M/Affected brother (#19 in Table 2) | ND | — | |
| #24 | Dup | arr[hg19] Xq27.3q28(146,425,635–151,604,987)x2 | 5.179 | 40 | FMR1, AFF2 | DD, SLD, FD and obesity | M/Affected brother (#25) | ND | — | |
| #25 | Dup | arr[hg19] Xq27.3q28(146,418,810–151,604,987)x2 | 5.186 | 40 | FMR1, AFF2 | DD, SLD, FD and obesity | M/Affected brother (#24) | ND | — | |
| #26 | Del | arr[hg19] 22q11.21(18,648,855–21,269,224)x1 | 2.620 | 58 | TBX1 | DIL, mot dif, hyperactivity | F/− | ND | Di George syndrome | |
| #33 | Del | arr[hg19] 18p11.32p11.23(136,227–8,348,006)x1 | 8.212 | 43 | TGIF | SID, mot dif and FD and hypotonia | F/*2Pv | ND | 18p deletion syndrome | |
| #33 | Del | arr[hg19] 18q22.2q23(67,357,305–78,013,728)x1 | 10.656 | 43 | RTTN, CTDP1 | SID, mot dif and FD and hypotonia | F/*2Pv | ND | — | |
| #44 | Del | arr[hg19] 22q13.2q13.33(43,600,479–51,197,766)x1 | 7.597 | 95 | UPK3A, FBLN1, SHANK3 | DIM, Mot Dif, FD and CA | F/− | ND | 46, XX, del(22)(q13) | Phelan-McDermid Syndrome |
| #47 | Del | arr[hg19] Xp22.33(372,029–578,764)x1 | 207 | 0 | SHOX | Short stature | F/*2Pv | ND | Leri-Weill dyschondrosthosis syndrome | |
| #47 | Del | arr[hg19] Xp22.33(679,520-950,907)x1 | 271 | 0 | SHOX | Short stature | F/*2Pv | ND | Leri-Weill dyschondrosthosis syndrome | |
| #52 | Del | arr[hg19] 22q13.33(50,788,193–51,115,526)x1 | 327 | 18 | SHANK3 | SID, Aut, mot dif, FD, CA and epilepsy. | M/ | ND | Phelan-McDermid syndrome | |
| #56 | Del | arr[hg19] 8p21.1p11.21(28,393,484–41,026,001)x1 | 12.632 | 69 | NRG1, FGFR1, ANK1 | DIL, FD | M/− | ND | XY, 46, del(8)(p21-p11) | 8p intersticial deletion including p12 syndrome |
| #61 | Del | arr[hg19] 13q34(114,141,294–115,107,733)x1 | 966 | 15 | TFD1, GRK1, RASA3, GAS6, CHAMP1 | DIL, hyperactivity | M/*2Pv/4 affected siblings | ND | Distal 13q deletion | |
| #61 | Dup | arr[hg19] 8p23.3p23.1(158,048–8,142,435)x3 | 7.984 | 64 | ARHGEF10, MCPH1 | DIL, hyperactivity | M/*2Pv/4 affected siblings | ND | Distal trisomy 8p | |
| #66 | Dup | arr[hg19] 15q25.1q26.3(80,304,866–102,429,040)x3 | 22.124 | 175 | AKAP13, CPEB1, NTRK3, WDR73 | SID, Aut, convulsions, SLD, hyperactivity, one kidney and FD | M/− | ND | — | |
| #69 | Del | arr[hg19] 16p12.2p11.2(21,405,327–29,388,495)x1 | 7.983 | 82 | SH2B1 | DIL, Aut, SLD, hyperactivity and FD | M/− | ND | — | |
| #70 | Dup | arr[hg19] 7q11.23(72,732,834–74,155,067)x3 | 1.422 | 27 | WBSCR27, WBSCR28 | DIM, Aut and hyperactivity | M/− | ND | — | |
| #76 | Dup | arr[hg19] 7q11.23(72,556,215–74,245,599)x3 | 1.689 | 34 | WBSCR27, WBSCR28 | DIL, Aut | M/− | ND | Williams-Beuren region duplication syndrome | |
| #77 | Del | arr[hg19] 15q13.2q13.3(31,073,735–32,446,830)x1 | 1.373 | 9 | CHNA7 | DIL, Aut and hyperactivity | M/− | ND | — | |
| #81 | Del | arr[hg19] 17q21.31(43,574,907–44,212,415)x1 | 637 | 11 | KANSL1 | SLD, convulsions and FD | M/*VOUS | ND | — | |
| #85 | Dup | arr[hg19] 7q31.32q33(122,739,692–136,150,625)x3 | 1.341 | 101 | WASL | DIL, mot dif, hyperactivity, FD and CA | F/− | ND | — | |
| #91 | Dup | arr[hg19] 16p13.3p13.12(85,880–14,524,038)x3 | 14.438 | 262 | CREBBP | SID, Aut | M/− | ND | 16p13.3 microduplication syndrome | |
| #93 | Del | arr[hg19] 3p14.1p13(68,988,297–70,938,968)x1 | 1.951 | 8 | MITF, TMF1 | Deafness, ophthalmopathy and ADHD | F/− | ND | Waardenburg syndrome type II | |
| #95 | Del | arr[hg19] 22q11.21(18,648,855-21,058,888)x1 | 2.410 | 55 | TBX1 | DIL, mot dif and hyperactivity | F/ | ND | Di George syndrome | |
| #102 | Del | arr[hg19] Xp22.31(6,449,752–8,135,644)x1 | 1.715 | 7 | STS | DD and FD | F/− | — | ||
| #105 | Del | arr[hg19] 1p36.33p36.32(1,073,574-2,458,606)x1 | 1.385 | 54 | GABRD, SKI | DIM and FD | M/− | — | ||
| #107 | Dup | arr[hg19] 7p21–p22.3 (43,376–9,454,786)x3 | 9.411 | 145 | RNF216 | MID, convulsions and FD | M/ | — | ||
| #113 | Del | arr[hg19] 16p13.3(85,880–2,145,951)x1 | 2.060 | 108 | TSC2, SOX8 | DD, FD and tuberous sclerosis | F/affected twin sister (#115) | ND | ATR-16 syndrome (#141750) (thalassemia/mental retardation syndrome) | |
| #115 | Del | arr[hg19] 16p13.3(85,880–2,146,448)x1 | 2.060 | 108 | TSC2, SOX8 | DD, FD and tuberous sclerosis | F/affected twin sister (#113) | ND | ATR-16 syndrome – (#141750) (thalassemia/mental retardation syndrome) | |
| #116 | Dup | arr[hg19] Xq26.3q28(135,224,845–155,233,098)x2 | 20.008 | 212 | GPR101, fmr1, fmr2, MECP2, RAB39B, FLNA, GDI1 | Low weight, abnormal growth, prematurity, CA, DD, FD and microcephaly | M/− | ND | 46, XY, add(22q) | Xq26.3, Xq27.3-q28 and Xq28 duplication syndromes |
| #127 | Dup | arr[hg19] 10q25.1q26.3(108,553,165–135,427,143)x3 | 26.873 | 182 | 101 OMIMs | Low weight, CA, DD, ID, epilepsy and FD | F/*2Pv | 46, XX, der(18)t(10; 18) (q25.2; q22,2) mat | 46, XX, add(18)(q23) | distal trisomy 10q syndrome |
| #127 | Del | arr[hg19] 18q22.3q23(69,055,745–78,014,123)x1 | 8.958 | 36 | 62 OMIMs | Low weight, CA, DD, ID, epilepsy and FD | F/*2Pv | 46, XX, der(18)t(10; 18) (q25.2; q22,2) mat. | 46, XX, add(18)(q23) | 18q deletion syndrome |
| #130 | Del | arr[hg19] 15q11.2(22,770,421–23,209,654)x1 | 732 | 6 | NIPA1, NIPA2, CYF1P1, TUBGCP5 | Short stature, DD, ADHD and FD | M/− | ND | 15q11.2 BP1–BP2 microdeletion syndrome (OMIM 615656) | |
| #148 | Del | arr[hg19] Xp22.3q28(1–247,249,719)x3 ou arr(X)x3 | 155.270 | — | — | DD, Aut and schizophrenia | F/− | ND | Triple X syndrome | |
| #149 | Del | arr[hg19] 5p15.31p14.3(6,801,589–18,992,827)x1 | 12.191 | 40 | — | Hypotonia, DD, SLD, behavioral disorder and FD | F/Sister of #445 | 46, XY, t(1; 2)(q44;~p23-pter); t(5; 7)(p14.3-p15.31; p22) pat. | Cri du-Chat syndrome | |
| #151 | Del | arr[hg19] 18p11.32p11.31(136,226–4,409,550)x1 | 4.273 | 26 | TGIF1, SMCHD1 | Short stature, FD, IUGR and DD | M/*3Pv | ND | — | |
| #151 | Dup | arr[hg19] 7p22.3p21.3(43,376–9,454,786)x3 | 9.411 | 92 | 50 OMIMs | Short stature, FD, IUGR and DD | M/*3Pv | ND | — | |
| #151 | Dup | arr[hg19] Xq28(151,356,116–155,233,731)x2 | 3.877 | 106 | MECP2, L1CAM | Short stature, FD, IUGR and DD | M/*3Pv | ND | Xq28 duplication syndrome | |
| #160 | Del | arr[hg19] 2q31.1-q31.2(174,065,715–190,659,870)x1 | 16.582 | 160 | HOXD, CHN1 | Short stature, DD, ID, SLD, epilepsy and FD | F/− | ND | 2q31.1 microdeletion syndrome | |
| #169 | Del | arr[hg19] 18p11.32p11.21(136,226–15,181,666)x1 | 15.045 | 86 | TGIF1, SMCHD1 | ID, FD and short stature | F/− | De Novo | partial 18p deletion syndrome | |
| #171 | Dup | arr[hg19] 7q31.32q33(122,739,692–136,150,625)x3 | 13.411 | 101 | LEP | DD and ID | F/− | ND | partial trisomy 7q31.32q33 | |
| #181 | Del | arr[hg19] 22q13.31q13.33(46,168,628–51,115,526)x1 | 4.947 | 66 | SHANK3 | Slender build, hypotonia, convulsions, DD and FD | F/− | ND | Phelan-McDermid syndrome | |
| #184 | Del | arr[hg19] 15q11.2q13.1(22,770,421–28,823,722)x1 | 6.053 | 121 | UBE3A, SNRPN | DD, ID, epilepsy, Aut and ADHD | M/− | ND | Angelman/Prader - Willi syndrome | |
| #188 | Dup | arr[hg19] 19p13.3(1,712,849–6,074,347)x3 | 4.361 | 131 | SEMA6B, MAP2K2 | DD, FD and microcephaly | M/*3Pv | ND | partial trisomy 19p13 | |
| #188 | Dup | arr[hg19] 19p13.3(260,911–1,434,508)x3 | 1.174 | 52 | — | DD, FD and microcephaly | M/*3Pv | ND | partial trisomy 19p13 | |
| #188 | Del | arr[hg19] 21q22.3(46,597,460–48,097,372)x1 | 1.450 | 24 | — | DD, FD and Microcephaly | M/*3Pv | ND | — | |
| #196 | Dup | arr[hg19] 18q21.2q22.1(49,094,563–66,586,144)x3 | 17.492 | 68 | PIGN | Short stature, CAs, DD, SLD and FD | F/*3Pv | ND | 46, XX, 5p+ | partial trisomy 18q |
| #196 | Dup | arr[hg19] 18q22.1q23(66,593,317–78,014,123)x3 | 11.421 | 41 | PIGN | Short stature, CAs, DD, SLD and FD | F/*3Pv | ND | 46, XX, 5p+ | Distal trisomy 18q |
| #196 | Del | arr[hg19] 5p15.33p15.2(113,576–12,747,875)x1 | 12.634 | 72 | CTNND2, TERT | Short stature, CAs, DD, SLD and FD | F/*3Pv | ND | 46, XX, 5p+ | Cri du-Chat syndrome |
| #216 | Del | arr[hg19] 17q21.31(43,703,801–44,212,416)x1 | 508 | 9 | KANSL1 | Low weight, short stature, fanconi anemia, DD, SLD and FD | F/− | ND | Koolen de Vries syndrome | |
| #219 | Dup | arr[hg19] 8p11.22p11.21(39,388,765–42,335,424)x3 | 2.946 | 22 | 18 OMIMs | Short stature, prematurity, IUGR, DD and FD | F/*3Pv | ND | 46, XX, add(8)(p23.1) | 8p inverted duplication/deletion [invdupdel(8p)] syndrome |
| #219 | Dup | arr[hg19] 8p23.1p11.22(11,935,023–39,246,760)x3 | 27.311 | 191 | 119 OMIIMs | Short stature, prematurity, IUGR, DD and FD | F/*3Pv | ND | 46, XX, add(8)(p23.1) | 8p inverted duplication/deletion [invdupdel(8p)] syndrome |
| #219 | Del | arr[hg19] 8p23.3p23.1(158,048–6,940,661)x1 | 6.782 | 31 | 15 OMIMs | Short stature, prematurity, IUGR, DD and FD | F/*3Pv | ND | 46, XX, add(8)(p23.1) | 8p inverted duplication/deletion [invdupdel(8p)] syndrome |
| #235 | Dup | arr[hg19] 17p11.2(16,591,260–20,473,937)x3 | 3.882 | 68 | RAI | Slender build, DD, SLD, DIM, Aut and FD | F/− | ND | Potocki-Lupski syndrome | |
| #236 | Dup | arr[hg19] 17q23.3q24.2(62,339,243–65,959,327)x3 | 3.620 | 31 | BPTF, PSMD12 | Slender build, DD, behavioral disorder, FD, Microcephaly and Cardiomyopathy | F/− | ND | — | |
| #237 | Del | arr[hg19] 13q21.32q32.1(65,840,171–95,798,028)x1 | 29.958 | 74 | — | Not reported | F/− | ND | partial 13q monosomy syndrome | |
| #238 | Del | arr[hg19] 7p14.1p12.3(41,339,411–47,849,443)x1 | 6.510 | 59 | GLI3 | CAs, DD, SLD, ID and FD | F/− | ND | Greig syndrome | |
| #249 | Del | arr[hg19] 10q26.11q26.3(121,477,949–135,426,386)x1 | 13.948 | 105 | — | DD, ID, FD and microcephaly | F/− | ND | 10q26 deletion syndrome | |
| #251 | Dup | arr[hg19] 19p13.3(260,911–2,328,485)x3 | 2.068 | 90 | 61 OMIM genes | Obesity, DD, ID, FD and ectodermal dysplasia | M/*2Pv | ND | partial trisomy 19p13 syndrome | |
| #251 | Del | arr[hg19] 20q13.33(62,288,778–62,913,645)x1 | 625 | 32 | 16 OMIM genes | Obesity, DD, ID, FD and ectodermal dysplasia | M/*2Pv | ND | — | |
| #255 | Dup | arr[hg19] 22q11.21q11.23(18,493,187–24,313,652)x3 | 5.820 | 125 | TBX1 | DD, Aut and FD | M/*VOUS | ND | 22q11.21 duplication syndrome | |
| #263 | Del | arr[hg19] 9p24.2p22.2(4,339,192-18,272,756)x1 | 13.934 | 45 | 32 OMIMs | Hypotonia, CAs, DD and FD | M/− | ND | 47, XY + mar | 9p deletion syndrome |
| #264 | Dup | arr[hg19] 1q21.1q21.2(146,496,425–147,819,815)x3 | 1.323 | 16 | PRKAB2, FMO, CHD1L, GJA5, GJA8, GPR89B | Hyperactivity, behavioral disorder, SLD, ASD, LD | M/− | ND | 1q21.1 duplication syndrome | |
| #270 | Del | arr[hg19] 15q11.2(22,770,421–23,282,799)x1 | 512 | 8 | NIPA1, NIPA2, CYF1P1, TUBGCP5 | Convulsions, CAs, DD, epilepsy, hearing deficit, FD and hirsutism | M/*3Pv | ND | 15q11.2 BP1–BP2 microdeletion syndrome (OMIM 615656) | |
| #270 | Del | arr[hg19] 18q22.1q23(65,997,926–78,014,123)x1 | 12.016 | 42 | RTTN, MBPP, TSHZ1 | Convulsions, CAs, DD, epilepsy, hearing deficit, FD and hirsutism | M/*3Pv | ND | — | |
| #270 | Dup | arr[hg19] 3q26.32q29(178,907,147–197,851,986)x3 | 18.945 | 180 | 112 OMIMs | Convulsions, CAs, DD, epilepsy, hearing deficit, FD and hirsutism | M/*3Pv | ND | — | |
| #296 | Del | arr[hg19] 16p11.2(29,580,020–30,176,508)x1 | 596 | 28 | ALDOA | Obesity, convulsions, DD, SLD, LDO., ID, epilepsy and hypoglycemia | M/− | ND | 16p11.2 deletion syndrome | |
| #305 | Dup | arr[hg19] Xq27.3q28(142,412,280–155,233,098)x2 | 12.821 | 167 | FMR1-AS1, FMR1, AFF2, MECP2 | Obesity, CAs, DD, ID, FD and cutis marmorata | M/− | ND | 46, XY, add(X)(p22) | Xq27.3-q28 and Xq28 duplication syndrome |
| #306 | Dup | arr[hg19] 15q11.2q13.1(23,286,571–28,946,433)x4 | 5.660 | 116 | CYF1P1, PWRN1, PWRN2, SNRPM, UBE3A | DD | M/− | ND | 15q11-q13 duplication syndrome | |
| #312 | Del | arr[hg19] 22q11.21(18,916,842–21,798,907)x1 | 2.882 | 70 | TBX1 | CAs, SLD, LDO. and FD | M/− | ND | Di George syndrome | |
| #331 | Del | arr[hg19] 4p16.3(68,345–964,416)x1 | 896 | 18 | LETM1, WHSC1 | DD, Epilepsy and FD | M/*2Pv/*VOUS | ND | Wolf-Hirschhorn syndrome | |
| #331 | Del | arr[hg19] 4p16.3(970,878–4,015,580)x1 | 3.045 | 50 | NSG1 | DD, Epilepsy and FD | M/*2Pv/*VOUS | ND | — | |
| #332 | Dup | arr[hg19] 3q29(192,443,188–197,851,986)x3 | 5.409 | 70 | 35 OMINs | DD, ID and FD | F/*2Pv | ND | 3q29 Microduplication syndrome | |
| #332 | Del | arr[hg19] 7q34q36.3(143,069,244–159,119,707)x1 | 16.050 | 142 | 67 OMIMs | DD, ID and FD | F/*2Pv | ND | 7q34-36 deletion syndrome | |
| #339 | Del | arr[hg19] 12p13.2p13.1(10,922,516–12,937,320)x1 | 2.015 | 40 | LRP6 | Slender build, FD, and alopecia | F/− | ND | 46, XX, Inv (12)(p13q24.1) | — |
| #343 | Del | arr[hg19] 1p36.33p36.31(849,466–5,830,248)x1 | 4.981 | 94 | GABRD, PRKC2, SKI, | DD, SLD, ID, CAs and hypothyroidism | F/− | ND | 1p36 deletion syndrome | |
| #345 | Del | arr[hg19] 14q32.2q32.31(100,095,248–102,755,064)x1 | 2.660 | 117 | PEGS (DLK1 and RTL1), MEGS (MEG3 and MEG8) | Low weight, short stature, prematurity, IUGR, ataxia, scoliosis, DD, SLD, SID, Aut, FD and early puberty | F/− | ND | Temple syndrome | |
| #366 | Del | arr[hg19] 6q25.1q26(150,944,729–164,003,180)x1 | 13.058 | 71 | ARID1B | Low weight, short stature, CAs, DD, FD and ventricular septal defect | F/− | ND | 6q25.1 deletion syndrome | |
| #372 | Dup | arr[hg19] 4p16.3p16.1(68,345–9,509,606)x3 | 9.441 | 148 | 72 OMIMs | Hypotonia, DD, SLD, LDO., DIL and behavioral disorder | M/*2Pv | ND | — | |
| #372 | Del | arr[hg19] 8p23.3p23.1(158,048–6,938,050)x1 | 6.780 | 46 | MCPH1 | Hypotonia, DD, SLD, LDO, DIL and behavioral disorder | M/*2Pv | ND | — | |
| #377 | Dup | arr[hg19] 22q11.21(18,648,855–21,461,017)x3 | 2.812 | 69 | TBX1 | Convulsions, ID, DD, SLD, ADHD and FD | M/− | ND | 22q11.21 duplication syndrome | |
| #385 | Del | arr[hg19] 21q22.12q22.2(35,834,713–39,831,660)x1 | 3.997 | 32 | DYRK1A | Convulsions, ID, DD, SLD, Aut, cardiomyopathy, abnormal external genitalia and thrombocytopenia | M/− | ND | 21q22.12 microdeletion syndrome | |
| #392 | Dup | arr[hg19] 21q11.2q22.3(15,006,457–44,968,648)x3 | 29.962 | 224 | — | Not reported | M/*3Pv | ND | 46, XY, r(21)(p21q22.3)[?]/46, XY, idic(21)(p13)[?] | trisomy of chromosome 21 |
| #392 | Dup | arr[hg19] 21q22.3(44,974,017–45,685,800)x3 | 711 | 12 | — | Not reported | M/*3Pv | ND | 46, XY, r(21)(p21q22.3)[?]/46, XY, idic(21)(p13)[?] | — |
| #392 | Del | arr[hg19] 21q22.3(45,685,800–48,097,372)x1 | 2.411 | 58 | — | Not reported | M/*3Pv | ND | 46, XY, r(21)(p21q22.3)[?]/46, XY, idic(21)(p13)[?] | Terminal 21q del |
| #399 | Dup | arr[hg19] 17p11.2(16,591,260–20,462,723)x3 | 3.871 | 69 | RAI | Short stature, DD, FD and macrocephaly | F/− | ND | Potocki-Lupski syndrome | |
| #407 | Del | arr[hg19] 21q22.3(45,434,816–48,093,361)x1 | 2.659 | 63 | — | Low weight, abnormal growth, convulsions, neuropathies, DD, FD and congenital cardiopathy | F/*2Pv | ND | — | |
| #407 | Dup | arr[hg19] 3q26.1q29(166,855,496–197,851,444)x3 | 30.996 | 228 | SHOX2 | Low weight, abnormal growth, convulsions, neuropathies, DD, FD and congenital cardiopathy | F/*2Pv | ND | 46, XX, add(21)(q22.3) | Distal trisomy 3q |
| #409 | Del | arr[hg19] 22q11.21(18,916,842–20,716,903)x1 | 1.800 | 46 | PRODH, TBX1, DGCR6L | CAs, ligament laxity, DD and FD | M/− | ND | Di George syndrome | |
| #416 | Del | arr[hg19] 18q21.32q23(58,921,746–78,013,728)x1 | 19.092 | 75 | PIGN | Obesity, CAs, DD, ID, deafness, Aut, FD and thrombocytopenia | M/− | ND | 18 q21.32-qter deletion syndrome | |
| #422 | Dup | arr[hg19] 18p11.32p11.21(136,227–15,099,116)x4 | 14.963 | 88 | 46 OMIMs | CAs, DD, FD, macrocephaly and renal cysts | M/karyotype 47, XY +mar(30) | ND | 47, XY + mar | tetrasomy 18p11.21-p11.32 |
| #433 | Dup | arr[hg19] 7q31.32q33(122,736,512–136,162,906)x3 | 13.426 | 101 | LEP | ID | M/− | ND | partial trisomy 7q31.32q33 | |
| #443 | Dup | arr[hg19] 22q12.3q13.1(35,888,588–38,692,765)x4 | 2.804 | 59 | 45 OMIMs | Low weight, short stature, DD, SLD, Aut, behavioral disorder, FD and mongolian stains | M/− | ND | — | |
| #445 | Dup | arr[hg19] 5p14.3–p15.31 (6,801,589–18,992,827)x3 | 12.131 | — | — | Not reported | Brother of #149 | 46, XY, t(1; 2)(q44;~p23-pter); t(5; 7)(p14.3-p15.31; p22) pat. | partial trisomy 5p14.3-p15.31 |
Pathogenic CNVs found by CMA in the cohort, with the number of genes present in the region, listing the most relevant genes and phenotypes for each individual. Du p = Duplication, Del = Deletion, CA = congenital anomalies, DD = developmental delay, MID = mild intellectual disability, SID = severe intellectual disability, Aut = autism, Mot Dif = motor difficulties, FD = facial dysmorphisms, SLD = speech and/or language delay or impairment, IUGR = intrauterine growth restriction, ADHD = Attention-deficit/hyperactivity disorder, LDO = learning difficulty only, LD = Learning disability, ND = not determined. F = Female, M = Male. *VOUS = Patients with VOUS (CNV). *2Pv = Patients with 2 pathogenic CNVs. *3Pv = Patients with 3 pathogenic CNVs.