Table 1. Array results and clinical features patients included in the present study.

Case	CMA results ISCN 2016	Pathogenicity	Main reason for CMA referral
Deletions-only
P2109_190	arr[GRCh37] 5p15.1(16715952_16736553x1,16758650_16771432x1) NC_000005.9:g.[16715952_16736553del;16736554_ 16758649inv;16758650_16771432del]	VUS	Liver malformation
P72	arr[GRCh37] 7q11.22q11.23(70610154_72399292x1,74050199_74834365x1) dn NC_000007.14:g.[70609300_72422999del;72423000_74047984inv;74047986_74049000del]	VUS	Speech delay, Autism
P2109_302	arr[GRCh37] 11q14.3(89843044_91294308)x1 mat NC_000011.9:g.[89543002_89640782del;89640783_ 89766001inv;89766002_91339106del]	VUS	Developmental delay, Speech delay, Visual abnormality, Craniosynostosis
P2109_123	arr[GRCh37] 17p13.3(2173896_2414920)x1 pat NC_000017.10:g.[2220422_2484969del;2484970_2617882inv;2617882_2649613del]	VUS	Speech delay, ADHD, Autism
P2109_188	arr[GRCh37] 21q22.3(43427355_44858483x1,45803409_48095807x1) dn NC_000021.8:g.[43414907_44797114del;44797115_44797221inv; 44797222_45781000del;45781001_45781001inv;45781002_ 48101999del]	Pathogenic	Developmental delay, Speech delay
P81	arr[GRCh37] 4q31.3q34.1(155165258_158705411x1,161300937_166372343x1,171349346_174403566x1) dn NC_000004.11:g.[154997276_155050346del;155164913_158707725del;158707726_171342995 inv;161297891_166374443del;171342996_174401004del]	Pathogenic	Developmental delay, Speech delay, Growth retardation
P2046_133	arr[GRCh37] 5q31.3q32(144027815_146077337x1,146851376_149511942x1) dn NC_000005.9:g.[389431_146087031delins[154993195_155919592];146087030_146847080inv;146847081_149533960;delins[143779195_144018754inv;141466787_143779194;399867_141466786inv;155929947_157385269];154977468_157385268del]	Likely Pathogenic	Developmental delay, Speech delay
P00	arr[GRCh37] 7q11.23q21.11(75063222_77310662x1,77629679_77770664x1,78236090_79911425x1, 82687283_82746799x1)dn NC_000007.14:g.[74942506_77216338delins[77754229_77756619inv;77770732_78236952inv;78265840_82690202inv];77226982_77226980del;77226981_77626463inv;77626464_77626462del;77626463_78265840inv;78265841_82754313del]	Pathogenic	Infantile spasms, Hypotonia
Duplications-only
P06	2p25.3(843845_1119040x3, 1611691_1857096x3) mat NC_000002.11:g. [1114148_1114149ins[1610546_1855037;846167 _1114148]] or 2p25.3(843845_1119040x3, 1611691_1857096x3) mat NC_000002.11:g.[1855037_1855038ins[846167 _1114148;1610546_1855037]]	VUS	Developmental delay
P4855_511	2p25.3(844930_1112989x3, 1618416_1856851x3) mat NC_000002.11:g.[1114148_1114149ins[1610546_1857566;842609_1114148]] or 2p25.3(844930_1112989x3, 1618416_1856851x3) mat NC_000002.11:g.[1857566_1857567ins[842609_1114148;1610546_1857566]]	VUS	Obesity, Autism, ADHD, Visual abnormality
P2109_150	7q31.1(111303881_114362948)x3 mat NC_000007.13:g.[111941768_111941769ins[111963146_114365115;111281787_111941768]] or 7q31.1(111303881_114362948)x3 mat NC_000007.13:g.[114365115_114365116ins[111281787_111941768;111963146_114365115]]	VUS	ADHD, autism
P2109_151	arr[GRCh37] 14q32.31(102161711_102573503)x3 mat NC_000014.8:g.[105092354_105092355ins[102138899_102589089inv;104966644_105092354]]	VUS	Psychiatric abnormality
P74	16q24.3(88727553_ 89319419x3, 89769750_90022565x3) mat NC_000016.9:g.[90023923_90023924ins[88726889_89324612inv;89772550_90023923]]	Benign	Intellectual Disability, Epilepsy
P4855_512	21q22.3(43854701_44578748x3, 44848406_46436410x3) pat NC_000021.8:g.[44845646_44846415_ins43854243_44581164inv;44844321_46454415dup]	VUS	NI
P5513_206	14q21.3q31.3(47413346_47731287x3, 49230279_60603652x3,63741627_75994279x3, 86907487_87165260x3) dn NC_000014.8:g.[61179000_61179001ins[47888602_48264000inv;49718081_59901890;87383926_87638698;64300950_76522298inv;59922753_61179000]]	Likely Pathogenic	Heart malformation
Deletions-and-Duplications
P2109_162	1q43q44(238817623_244138230x1,245617207_246442209x1,247846701_248592414x3) dn NC_000001.11:g.[238802166_244149898delins[246444835_246492103;247836549_248600189 inv];244149899_246491796inv;245599009_246492102del]	Likely Pathogenic	Microcephaly, Intellectual Disability, Short stature
P5513_116	Xp22.33p21.3(285997–26552426)x3,Xq21.1q28(78198636–155559835)x1 dn NC_000023.10:g.[77417096_qterdelins[76868256_77229642inv;pter_26552817inv]]	Likely Pathogenic	NI
P5371_204	arr[GRCh37] 13q31.3q34(93528347_110077805x3, 111492168_111972238x1,113582129_114985061x3) dn NC_000013.10:g.[110081347_110102355delins93523111_110075934inv;111492500_111980567del;11358843_115000804dup]	Pathogenic	Developmental delay
P2109_185	5p15.33(19,524–2,572,011)x1,5p15.33p14.3(2,556,253–21,131,828)x3,5q35.3(177,638,723–180,712,342)x3 dn NC_000005.9:g.[pter_2559532delins[2587902_7481754inv;177636532_qterinv];7507897_7669625delins7673762_21097826inv]	Pathogenic	Epilepsy
P2109_176	2q32.1q36.3(186356601_188906835x1,188926928_225298653x3,225317517_226707110x1) dn NC_000002.11:g.[186345992_186383076delins187132941_186383235; 186383076_186383236inv;186383076_186383235ins[226652944_226738875inv;187132942_187298167];186383236_187298165del;188892330_225311353dup;225311194_226718660del]	Pathogenic	Lung malformation
P1426_301	arr[GRCh37] 21q21.1q22.3(16502517_26253075x1,29053919_29464120x1, 33272142_36164839x1, 38469325_38847524x1,27373586_27514060x3,28298721_28571261x3, 31095940_31257111x3, 46317441_46473088x3) dn NC_000021.8:g.[17867977_27624991_delins[29944106_29809107inv;29651577_29785938inv;32467984 _32678337;?;28304789_28316917inv];?_?ins28727001_28879383;30426350_30815784delins30815785_34656669inv;34178763_34656669;34656670_37539019delins[47729066_47896585inv;45504605 _46563358inv;37539020_40225591inv;46546718 _46563358];39830240_40225590del]	Pathogenic	Multiple internal organ malformations, Hypertonia, Visual abnormality (Lindstrand et al., 2010)

mat, maternal; pat, paternal; dn, de novo; VUS, variant of uncertain significance; NI, no information