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Table 1 Summary of karyotypes, SNP array result, ultrasound findings and pregnancy outcome

From: Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

Case no.KaryotypeSNP arraySize (Mb)PCIndicationDe novo/inheritedUltrasound findingsPregnancyoutcome
147,XX,+mar[53]/46,XX[22]1p13.2p11.2(115796490-121184898)×3,5.39VOUShigh risk of T21(1/230)de novono abnormal changestermination of pregnancy
UPD(1)/VOUS
247,XX,+mar[6]/46,XX[24]2p12q12.1(82947063-104957361)×2~3[75%]22.01VOUSoligohydramniosde novooligohydramniostermination of pregnancy
347,XY,+mar[7]/46,XY[38]3q26.31q29(172862469_197851444)×2~3[30%]24.99PAbnormal pregnancy historyde novonasal bone hypoplasiatermination of pregnancy
447,XY,+mar[30]/46,XY[9]4p12q13.1(46214008_60186304)×313.97LPhigh risk of T21(1/147)de novono abnormal changestermination of pregnancy
547,XX,+mar15q11.1q11.2(20161372_23300172)×43.14VOUSadvanced maternal agede novoNT4.8mmContinued gestation
647,XX,+mar15q11.2(22770421_23625785)×40.86VOUShigh risk of T21(1/220)de novo/Continued gestation
748,XX,+2mar[30]/47,XX, +mar[28]/46,XX[7]15q11.2q13.1(22754322_28969665)×2~66.22LPadvanced maternal agede novo/termination of pregnancy
847,XY,+mar18p11.32p11.21(12842_15375878)×415.36Phigh risk of T18(NIPT)de novo/termination of pregnancy
947,XY,+mar[14]/46,XY[16]21q11.2q21.1(14687571-18864186)×2~44.18LBhigh risk of T21(1/180)matno abnormal changesContinued gestation
1047,XY,+mar22q11.21(18648855_21464764)×42.82LPNT3.4mmde novopyelectasisContinued gestation
1147,XY,+mar22q11.1q12.1(16079545_27421632)×3,11.34LPhigh risk of T22(NIPT)de novono abnormal changestermination of pregnancy
22q12.2q13.2(29841642_43483242)×2hmz/VOUS
1247,XX,+marnormal//advanced maternal agematno abnormal changesContinued gestation
1346,X,+marYq11.222q11.23(20828795_28799654)×07.97Padvanced maternal agepatno abnormal changesContinued gestation
1446,X,+mar[17]/46,XY[15]Yp11.31q11.23(2655180_28498354)×2,25.84VOUSadvanced maternal agede novono abnormal changestermination of pregnancy
Yq11.23(28455408_28760588)×00.31P
1545,X[14]/46,X,+mar1[9]/46,X,+mar2[6]Yq11.21q11.223(13800955_23653757)×0~1,9.85Phigh risk of chr X(NIPT)de novono abnormal changestermination of pregnancy
Yq11.223q11.23(23653757_28799654)×05.15P
  1. PC, pathogenicity classification, VOUS variant of unknown significance, P pathogenic, LP likely pathogenic, LB likely benign
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