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Table 1 Clinical findings of 23 patients and CNV status

From: Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

Case Age Region OMIM Phenotype (number) Comment Type/Size Inheritance Genes involved Likely pathogenic genes Intellectual Disability Developmental Delay Dysmorphic features Other findings
1 1,5 y chr1:849466–3,152,968 1p36 deletion syndrome (607872) Path Del
2.3 Mb
De novo 76 DVL1, ATAD3A, GNB1, GABRD, SKI, PEX10, PRDM16 N/A + prominent forehead, pointed chin, deep-set eyes, straight eyebrows dilated cardiomyopathy, epilepsy
2 4 m chr1:145927661–148,588,367 1q21.1 deletion syndrome (612474) Path Del
2.6 Mb
Mot her 31 NBPF10, HYDIN2, NBPF12, PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, NBPF11, PPIAL4A, NBPF14, NBPF9 N/A N/A wide nasal bridge, bulbous nose and retrognathia. pectoral muscle hypoplasis, radius and humerus hypoplasis, short and curved ribs
3 6 y chr1:145607915–146,497,779   UCS/L-Path Del 0.9 Mb De novo 14 GPR89A, PDZK1, CD160, POLR3C, NBPF12 + + strabismus, hypertelorism congenital hypothyroidism
4 2,5y chr2:10266562–16,826,500   Path Dup
6.5 Mb
De novo 20 ODC1, LPIN1, MYCN, NBAS, N/A + prominent forehead, retrognathia, broad eyelashes, cupped ear, uplifted lobe dysplastic aortic valve, hydrocephalus, cerebral atrophy
5 8 m chr2:222686398–226,097,873   Path Del
3.4 Mb
De novo 16 PAX3, AP1S3, MRPL44, CUL3 N/A + prominent forehead, hypoplastic alae nasi, epicanthal fold  
6 14,5 y chr6:6806969–13,794,521   Path Del
6.9 Mb
De novo 46 DSP, TFAP2A, GCNT2, MAK, GCM2, EDN1, TBC1D7 + + dolicocephaly, facial asymmetry, open mouth, depressed nasal tip, absent ear lobe, atrial septal defect, bilateral cleft lip
7 8,5 y chr6:70373236–79,654,154, chr8:78808754–81,835,864   Path
Del 9.2 Mb/Del 3 Mb De novo 49 LMBRD1, COL9A1, RIMS1, KCNQ5, KHD3CL, MYO6,MTO1, SLC17A5, COL12A1,IMOG1 + + long face, wide mouth, high arched palate potent ductus arteriosus, renal agenesis, pes equinovarus
8 4 m chr6:151310706–170,919,482   Path Del 19.6 Mb De novo 115 SYNE1,ESR1, ARİD1B, LPA, PDE10A,T, ERMARD,TBP, N/A + sunset eye sign, low set ears, pointed chin hydrocephalus, cerebral atrophy
9 1 m chr6:163378290–16,709,184, chr6:160713926–16,287,570, chr6:141494387–144,877,906   Path
Dup 3.7 Mb
Del 2.1 Mb
Del 3.3 Mb
De novo 17
PACRG, QKI, PDE10A, T, MPC1, RPS6KA2, SLC22A3, LPAL2, LPA, PLG, MAP3K4, AGPAT4, PARK2, NMBR, VTA1, GPR126, HIVEP2, AIG1, PEX3, PLAGL1, HYMAI, STX11, UTRN N/A + upslanting palpebral fissures, round face neonatal diabetus, hypotonia, deafness
10 9 y chr14:103255460–107,285,437   Path Del 4 Mb De novo 56 TRAF3, APOPT1, RCC3, INF2, AKT1, BRF1,IGHM + + long face, pointed chin, anterverted ears, epicanthal fold
11 11,5 y chr14:99528241–107,285,437   Path Dup 7.7 Mb De novo 183 YY1, DYNC1H1, TECPR2, APOPT1, XRCC, ADSSL1, AKT1, ZBTB42, BRF1, IGHG2, + + facial asymmetry, downslanting palpebral fissures, prognathism, macrocephaly strabismus, ptosis,
12 5 y chr15:22770421–30,295,864   Path Dup 7.5 Mb De novo 131 MKRN3, MAGEL2, NDN, SNRPN,UBE3A,GABRB3,OCA2, HER2 + + hypertelorism, depressed nasal bridge, unilateral deafness, autism spectrum disorder
13 6 y chr15:22770421–23,276,605   UCS/L-Path Del 0.5 Mb De novo 7 NIPA1, NIPA2, CYFIP1, TUBGCP5 + + hypertelorism, short palpebral fissures, blepharophimosis corpus callosum agenesis, hypothyroidism
14 15 y chr16:89342189–89,552,394 KBG Syndrome (148050) Path Del
0.2 Mb
De novo 2 ANKRD11 + + long and triangular face structure, large, protruding ears degenerative myopia
15 13,5 y chr18:136226–6,992,327   Path Del 6.8 Mb De novo 41 SMCHD1, LPIN2, TGIF1, LAMA1 + + hypertelorism, broad nasal bridge obesity
16 10 y chr18:59720983–78,014,123   Path Del 18.2 Mb De novo 72 PIGN,TNFRSF11A, BCL2, KDSR, SERPINB7, RTTN, CYB5A, TSHZ1, CTDP1, XNL4A + + frontal bossing, deep set eyes, depressed nasal bridge sensorineural deafness, strabismus
17 3 y chr18:67847004–70,771,041   UCS/L-Path Del 2.9 Mb De novo 6 RTTN, SOCS6, CBLN2, NETO1 N/A hypertelorism, broad nasal bridge autism spectrum disorder
18 13 y chr18:65852206–76,107,497   Path Del 10 Mb De novo 32 RTTN, SOCS6, CBLN2, NETO1, CYB5A, TSHXZ1, GALR1 + + frontal bossing, deep set eyes, protruding ears feeding difficulties
19 9 m chr19:11284538–13,555,660   UCS/L-Path Del 2.2 Mb De novo 78 KANK2, DOCK6, EPOR, PRKCSH, ACP5, MAN2B1, RNASEH2A, KLF1, CALR, NFIX, LYL1, NACC1, CACNA1A N/A + deep set eyes, micrognatia hypotonia
20 5 y chr22:18917030–21,465,662 DiGeorge syndrome (188400) Path Del 2.5 Mb De novo 66 PRODH, SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, + + hypertelorism, blunted nose, high arched palate, tetralogy of fallot
21 5 y chr22:19004771–21,443,283 22q11.2 microdup lication syndrome (608363) Path Dup 2.4 Mb Father 63 SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, + + frontal bossing, synophrys, pytosis, strabismus,
22 11,5 y chr22:19077926–21,804,886 22q11.2 microdup lication syndrome (608363) Path Dup 2.7 Mb De novo 65 SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, no dysmorphic features loss of cognitive functioning
23 11 y chr22:18917030–21,421,425 22q11.2 microdup lication syndrome (608363) Path Hom dup 2.5 Mb Mother and father 66 PRODH, SLC25A, CDC45, GPİBB, TBX1, COMT, TANGO2, RTN4R, CARF2, PI4KA, SERPIND1, + + Round face, broad nasal bridge, hypertelorism, downslanting palpebral fissures, long philtrum, overfolded helix patent ductus arteriosus, hypoplasia of clivus