Table 2: CNVs identified during array CGH analysis using CytoChip oligonucleotide arrays.

CaseSampleGAReason for referralResultStatusInh.Clinical significanceArray typeKaryotypeCatGenome build

5AF17Investigation of abnormal karyotypemos 47,XY,+mar. arr 21q11.2q21.1(13,539,832-15,716,987)x3~4,21q21.3
(27,787,566-28,368,946)x3
Dup (2.1 Mb), Dup (0.5 Mb)De novo Significant105 K 47,XY,+marENCBI36/hg18

9CVS13Ultrasound abnormalities/hypoplastic nasal bonearr 7q34q35(139,107,925-145,455,647x1)dnDel (6.3 Mb)De novo Significant105 K 46,XX,del(7)(q34q35)DNCBI36/hg18

12AF18U/S Findings/NT thicknessarr 5p14.3p14.2(22,344,207-24,523,053)x3 pat,15q25.2q25.3(81,011,096-83,478,823)x1 dnDel (2.4 Mb), Dup (2.2 Mb)Pat,
de novo
Significant105 K 46,XYANCBI36/hg18

29CVS12.2Investigation of abnormal karyotype47,XX,+mar/46,XX. arr 16p11.2p11.1(29,727,747-35,004,980)x2~3 dnDup (5.2 Mb)De novo Significant105 K 47,XX,+mar/46,XXENCBI36/hg18

31AF17Investigation of abnormal results with MLPAarr 22q11.21(17,274,865-19,891,492)x3 matDup (2.6 Mb)MatSignificant105 K 46,XY.mlpa 22q11.2(P023)x3 matENCBI36/hg18

34CVS13.2U/S Findingsarr 9q34.3(139,754,208-141,102,496)x1 mat,arr 17p13.3(48,569-2,002,395)x3 matDel (1.35 Mb), Dup (1.95)MatSignificant105 K 46,XYAGRCh37/hg19

36CVS12U/S Findings/NT thicknessarr 7q31.1(112,763,119-113,252,118)x3 matDup (0.5 Mb)MatUnrelated to the RFR180 K 46,XYAGRCh37/hg19

38AFU/S Findings/tetralogy of Fallotarr 9q34.3(139,754,208-141,102,496)X3,17p13.3(48,569-2,002,395)X1 matDup (1.35 Mb),
Del (1.95)
MatSignificant180 K 46,XXAGRCh37/hg19

42AF25U/S Findings/foetal anomaly, extremities artrogryposisarr 10p15.3(1,011,902-1,396,788)x3 pat,15q21.1(49,491,651-49,809,467)x1 matDup (0.38 Mb), Del (0.32 Mb)Pat, matUnrelated to the RFR180 K 46,XXAGRCh37/hg19

44AF21U/S Findings/foetal abnormality, cardiac anomalyarr 5q15(95,655,383-96,003,162)x1 patDel (0.35 Mb)PatUnrelated to the RFR180 K 46,XXAGRCh37/hg19

47AF16U/S findings/increased NT= 3,7 mmarr Xp22.33(716,598-1,224,238)x3 patDup (0.5 Mb)PatUnrelated to the RFR180 K 46,XYAGRCh37/hg19

48CVSU/S Findings/small-asymmetric embryoarr 7p22.2(4,137,938-4,677,493)x3 matDup (0.53 Mb)MatUnrelated to the RFR180 K 46,XYAGRCh37/hg19

49AF23.2U/S findings/aortic arch abnormalityarr Xp22.33(2,039,059-2,275,983)x3 matDup (0.24 Mb)MatUnrelated to the RFR180 K 46,XYAGRCh37/hg19

65AF25.1U/S findings/
ventriculomegaly
arr 4q35.1(185,787,238-186,132,543)x3 matDup (0.35 Mb)MatUnrelated to the RFR105 K 46,XYAGRCh37/hg19
52AF20U/S findings/bilateral hands polydactylyRequest family analysis before final report (array CGH), pending parental testingVOUSN/AN/A180 K 46,XXAGRCh37/hg19

61AF23.4U/S findings/cataracts, limb abnormalities/IUDRequest family analysis before final report (array CGH), pending parental testingVOUSN/AN/A105 K 46,XXAGRCh37/hg19

63AF18U/S findings/absence of nasal bone, hypoplasticRequest family analysis before final report (array CGH), pending parental testingVOUSN/AN/A105 K 46,XXAGRCh37/hg19

AF: amniotic fluid, CVS: chorionic villus sample, NT: nuchal translucency, IUGR: intrauterine growth retardation, Inh.: inheritance status, U/S findings: ultrasound findings, N/A: not applicable, GA: gestational age, Cat: category; Mat: maternal, Pat: paternal, RFR: reason for referral, VOUS: variable of unclear significance, and IUD: intrauterine death.