Table 2 Summary of abnormal cases

Aneuploidy

Duplication of whole chr.13

Trisomy 13

Patau syndrome

1

Duplication of whole chr.21

Trisomy 21

Down syndrome

17

Duplication of whole chr.X

47,XXY

Klinefelter syndrome

15

Duplication of whole chr.Y

47,XYY

XYY

9

Duplication of whole chr.X

47,XXX

Triple X

8

Deletion of whole chr.X

45,X

Turner syndrome

2

Deletion of whole chr.X

mos 45,X[28]/ 46,X,i(X)(p22.3 → q22::q22 → p22.3)[2]

Turner syndrome

1

Deletion/ Microdeletion

Deletion of 0.6 Mb at 3q29

46,XY.ish del(3)(q29)(PAK2-)

3q29 microdeletion

1

Deletion of 0.3 Mb at 5p15.2p15.3

46,XX.ish del(5)(p15.2p15.3)(D5S727-)

Cat cry syndrome

2

Deletion of 0.3 Mb at 5q35.2q35.3

46,XY.ish del(5)(q35.2q35.3)(NSD1-)

Sotos syndrome

1

Deletion of 3 Mb at 15q11.2

46,XX.ish del(15)(q11.2q11.2)(SNRPN-)

Prader-willi/Angelman syndrome

1

Deletion of 0.3 Mb at 17p11.2

46,XY.ish del(17)(p11.2p11.2)(PMP22-)

HNPP

2

Deletion of 0.3 Mb at 17p11.2

46,XX.ish del(17)(p11.2p11.2)(PMP22-)

HNPP

4

Deletion of 0.8 Mb at 22q11.2

46,XY.ish del(22)(q11.2q11.2)(TBX1-)

DiGeorge syndrome

2

Deletion of 0.6 Mb at Xp22.31

46,XY.ish del(X)(p22.31p22.31)(STS-)

Steroid sulfatase deficiency

7

Deletion of 53 Mb at Xp11.2pter/

46,X,i(X)(q10)

Sex chromosome abnormality

1

Duplication of 94 Mb at Xq10qter

Deletion of 55 Mb at Xq21qter

46,X,del(X)(q21qter)

Sex chromosome abnormality

2

Duplication/ Microduplication

Duplication of 0.3 Mb at15q11.2

46,XY.ish dup(15)(q11.2q11.2)(SNRPN+)

15q duplication

1

Duplication of 0.2 Mb at17p11.2

46,XY.ish dup(17)(p11.2p11.2)(PMP22+)

CMT1A

2

Duplication of 0.8 Mb at22q11.2

46,XY.ish dup(22)(q11.2q11.2)(COMT+)

22q11.2 duplication

5

Duplication of 0.8 Mb at22q11.2

46,XX.ish dup(22)(q11.2q11.2)(COMT+)

22q11.2 duplication

2

Small supernumerary marker chromosome

Duplication of 2 Mb at 15q11.2q13

mos 47,XX,+inv dup(15)(q11.2q13)[9]/ 46,XX[11]

Inverted duplication 15q

1