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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.

Karyotype

SNP array

Size (Mb)

PC

Indication

De novo/inherited

Ultrasound findings

Pregnancyoutcome

1

47,XX,+mar[53]/46,XX[22]

1p13.2p11.2(115796490-121184898)×3,

5.39

VOUS

high risk of T21(1/230)

de novo

no abnormal changes

termination of pregnancy

UPD(1)

/

VOUS

2

47,XX,+mar[6]/46,XX[24]

2p12q12.1(82947063-104957361)×2~3[75%]

22.01

VOUS

oligohydramnios

de novo

oligohydramnios

termination of pregnancy

3

47,XY,+mar[7]/46,XY[38]

3q26.31q29(172862469_197851444)×2~3[30%]

24.99

P

Abnormal pregnancy history

de novo

nasal bone hypoplasia

termination of pregnancy

4

47,XY,+mar[30]/46,XY[9]

4p12q13.1(46214008_60186304)×3

13.97

LP

high risk of T21(1/147)

de novo

no abnormal changes

termination of pregnancy

5

47,XX,+mar

15q11.1q11.2(20161372_23300172)×4

3.14

VOUS

advanced maternal age

de novo

NT4.8mm

Continued gestation

6

47,XX,+mar

15q11.2(22770421_23625785)×4

0.86

VOUS

high risk of T21(1/220)

de novo

/

Continued gestation

7

48,XX,+2mar[30]/47,XX, +mar[28]/46,XX[7]

15q11.2q13.1(22754322_28969665)×2~6

6.22

LP

advanced maternal age

de novo

/

termination of pregnancy

8

47,XY,+mar

18p11.32p11.21(12842_15375878)×4

15.36

P

high risk of T18(NIPT)

de novo

/

termination of pregnancy

9

47,XY,+mar[14]/46,XY[16]

21q11.2q21.1(14687571-18864186)×2~4

4.18

LB

high risk of T21(1/180)

mat

no abnormal changes

Continued gestation

10

47,XY,+mar

22q11.21(18648855_21464764)×4

2.82

LP

NT3.4mm

de novo

pyelectasis

Continued gestation

11

47,XY,+mar

22q11.1q12.1(16079545_27421632)×3,

11.34

LP

high risk of T22(NIPT)

de novo

no abnormal changes

termination of pregnancy

22q12.2q13.2(29841642_43483242)×2hmz

/

VOUS

12

47,XX,+mar

normal

/

/

advanced maternal age

mat

no abnormal changes

Continued gestation

13

46,X,+mar

Yq11.222q11.23(20828795_28799654)×0

7.97

P

advanced maternal age

pat

no abnormal changes

Continued gestation

14

46,X,+mar[17]/46,XY[15]

Yp11.31q11.23(2655180_28498354)×2,

25.84

VOUS

advanced maternal age

de novo

no abnormal changes

termination of pregnancy

Yq11.23(28455408_28760588)×0

0.31

P

15

45,X[14]/46,X,+mar1[9]/46,X,+mar2[6]

Yq11.21q11.223(13800955_23653757)×0~1,

9.85

P

high risk of chr X(NIPT)

de novo

no abnormal changes

termination of pregnancy

Yq11.223q11.23(23653757_28799654)×0

5.15

P

  1. PC, pathogenicity classification, VOUS variant of unknown significance, P pathogenic, LP likely pathogenic, LB likely benign