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Table 1 Clinical and molecular cytogenetic findings in patients with pathogenic CNVs

From: Importance of patient selection criteria in determining diagnostic copy number variations in patients with multiple congenital anomaly/mental retardation

Case No Age/ Sex Clinical findings Molecular karyotype Size MIM disease/OMIM genes Parental study
1 22/M Moderate mental retardation, essential hypertension, hyperglycemia, hyperlipidemia, atrophy of left kidney and left testicle, micropenis, Cranial MRI: normal arr[GRCh37] 17q12(34817554_36249799)×1 dn 1.43 Mb 614,527/ ZNHIT3, MYO19, PIGW, GGNBP2, DHRS11, MRM1, LHX1, AATF, ACACA, C17orf78, TADA2A, DUSP14, SYNRG, DDX52, HNF1B Normal
2 14/M Small for gestational age at birth, mild mental retardation, high palate, bilateral pes planus and hallux valgus, atrial septal defect, pulmonary valve stenosis, bilateral inguinal hernia and hydrocele, epilepsy, Cranial MRI: normal arr[GRCh37] 8p23.1(8103647_12404066)×1 dn 4.3 Mb CLDN23, MFHAS1, ERI1, PPP1R3B, TNKS, MSRA, PRSS55, RP1L1, C8orf74, SOX7, PINX1, XKR6, MTMR9, SLC35G5, FAM167A, BLK, GATA4, NEIL, FDFT1, CTSB, DEFB136, DEFB135, DEFB134, ZNF705D, USP17L7, USP17L2, FAM86B1, DEFB130, FAM86B2 Normal
9 1/M Moderate global developmental delay, frontal bossing, long face, high palate, long filter, short neck, hypotonia, strabismus, nystagmus, bilateral cataract, unilateral cryptorchidism, patent foramen ovale, proteinuria, Cranial MRI: arachnoid cyst arr[GRCh37] Xq25 (128,671,401 _128696724)×0 mat 25.32 Kb 309,000/OCRL Mother carrier for deletion
10 18/M Severe mental retardation, epilepsy, synophysis, high nasal root, prognathism, mild pectus excavatum, Cranial MRI: atrophy of cerebral sulcus and fissures arr[GRCh37] 3p26.3p26.2(1161258_3019093)×1 mat 1.86 Mb 613,792/ CNTN6, CNTN4 Mother carrier for deletion
19 7/M Moderate mental retardation, speech delay, synophysis, large and posterior rotated ear structure, bilateral epicantus, pes planus, Cranial MRI: normal arr[GRCh37] 15q11.2(22753658_23085387)×1 331.73 Kb 615,656/ TUPGCP5, CYFIP1, NIPA2, NIPA1 Mother carrier for deletion
25 8/M moderate mental retardation, microcephaly, coarse facial appearance, low anterior hairline, bilateral epicantus, upslant palpable fissure, bulbous nose, macroglossia, bilateral single transverse palmar crease, epilepsy, ventricular septal defect, Cranial MRI: Partial callosal agenesis and mild cerebellar atrophy arr[GRCh37]1q43q44(242854129_245344443)×1 dn 2.49 Mb 612,337/ CEP170, SDCCAG8, AKT3, ZBTB18, C1orf100, ADSS, C1orf101, DESI2, COX20, HNRNPU-AS1, HNRNPU, KIF26B, EFCAB2 Normal
29 1/F Moderate global developmental delay, bilateral strabismus, low set ears, high palate, downturned corners of mouth, micrognathia, bilateral clinodactyly of 4/5 toes, bilateral esotropia, high hypermetropia and isolated choroidal coloboma in the left eye, epilepsy, Cranial MRI: asymmetrical lateral ventricular enlargement arr[GRCh37]14q11.2(20424745_22263371)× 1 1.84 Mb 613,457/ PNP, ANG, EDDM3-A,B, RNASE-1,2,3,4,6,7,8,9,10,11,12,13, OR10G-3,2, OR6S1, OR4E1,2, ARHGEF40, SLC39A2, ARHGEF40, SLC39A2, METTL17, NGRG2, TPPP2, ZNF219,TMEM25, HNRNPC, OR5AU1, RPGRIP1, SUPT16H, CHD8, TOX4, RAB2B, METTL3, SALL2 Not performed
30 20/M Moderate mental retardation, long eyelashes, prominent maxilla, large ears, retrognathia, epilepsy, Cranial MRI: Perivascular dilatation in the left sublenticular region arr[GRCh37] 16p11.2(29652360_30198605)×1 dn 546.25 Kb 611,913/ SPN, QPRT, C16orf54, ZG16, KIF22, PRRT2, MAZ, PAGR1, MVP, CDIPT, SEZ6L2, ASPHD1, TMEM219, KCTD13, TAOK2, HIRIP3, ALDOA, C16orf92, PPP4C, TBX6, INO80E, DOC2A, FAM57B, YPEL3, MAPK3, GDPD3, CORO1A Normal