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

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