Table 2 The information of 48 unidentified sSMC patients

150234

male/prenatal

AF

47,XX,+mar[23]/46,XX[21]

STR: normal

Diabetes of type II

36/n.a.

n.a.

150693

female/prenatal

AF

48,XX,+18,+mar

STR: 18-trisomy syndrome (Edwards syndrome)

Down’s syndrome screening: high-risk. Advanced maternal age.

43/n.a.

n.a.

151434

male/prenatal

AF

47,XY,+mar

STR: normal. SRY: positive

Ultrasound: ventricular septal defect, small kidney.

31/46,XX;46,XY

de novo

153225

female/prenatal

AF

47,XX,+mar[5]/46,XX[39]

STR: normal

Ambryo develop delay

28/n.a.

n.a.

161045

n.a./prenatal

AF

45,X [11]/46,X,+mar[21]

STR: 45,X

NIPT: abnormal heterosome, NT:2.9 mm

36/n.a.

n.a.

163110

male/prenatal

AF

47,XY,+mar

STR: normal. SRY: positive

Cerebromedullary tube anisotrophy.

30/46,XX.

n.a.

170574

n.a./prenatal

AF

45,X[30]/46,X,+mar[3]

STR: 45,X

Single umbilical artery (SUA), seroperitoneum of fetus

30/n.a.

n.a.

172376

n.a./prenatal

AF

46,X,+mar[17]/45,X[12]

STR: 45,X

NT > 3 mm

33/46,XX.

n.a.

173060

female/prenatal

AF

47,XX,+mar

STR: normal

Down’s syndrome screening: high-risk

26/n.a.

n.a.

180036

female/prenatal

AF

47,XX,+mar[1](SC)/46,XX[35]

STR: normal

Oligohydramnios.

30/n.a.

n.a.

180748

female/prenatal

AF

47,XX,+mar[3](MC)/46,XX[22]

STR: normal

Twins

28/n.a.

n.a.

181010

female/prenatal

AF

47,XX,+mar[1]/46,XX[29]

NIPT: low risk. STR: normal

Ventricular septal defect

37/n.a.

n.a.

183584

male/prenatal

AF

47,XY,+mar[1]/46,XY[29]

STR: normal

Down’s syndrome screening: high-risk(1/346).

31/n.a.

n.a.

184082

female/prenatal

AF

47,XX,+mar[1]/46,XX[29]

STR: normal

Down’s syndrome screening: high-risk

26/n.a.

n.a.

184172

male/prenatal

AF

47,XY,+mar[1](SC)/46,XY[24]

NGS: dup(11)(p15.3→p15.3)×3, dup(6)(p12.32)(32400000–32780000)×3

NT: 2.5 mm

27/n.a.

n.a.

A1045

female/prenatal

UCB

47,XX,+mar

Develop delay for one month.

30/n.a.

n.a.

61200

male/32y

PBL

47,XY,+mar[6]/36,XY[13]

AZF: normal. SRY: positive

Infertile.

n.a.

n.a.

61397

male/24y

PBL

47,XY,+mar

AZF: normal. SRY: positive

Azoospermatism, hyperprolactinemia.

n.a.

n.a.

62254

female/3y

PBL

47,XX,+mar

MLPA: normal

Global developdelay

n.a.

n.a.

63001

male/29y

PBL

47,XY,+mar

AZF: normal. SRY: positive

Asthenospermia

n.a.

n.a.

63411

female/22y

PBL

47,XX,+mar

The mother of a patient with develop delay .

n.a.

n.a.

65676

female/3y

PBL

48,XX,+ 21,+mar[13]/47,XX,+ 21[7]

Heart malformation

n.a.

n.a.

67979

female/9y

PBL

46,X,+mar[14]/45,X[11]

Runtishness

n.a.

n.a.

69235

female/12 m

PBL

46,X,+mar[8]/45,X[12]

MLPA: X was abnormal

Developdelay

n.a.

n.a.

72699

male/3y

PBL

48,XY,+mar1,+mar2

MLPA: normal

Autism.

n.a.

n.a.

73431

male/10y

PBL

48,XY,+mar1,+mar2

SRY: positive

Astigmia and hypometropia.

n.a.

n.a.

73940

female/59y

PBL

47,XX,+mar

n.a.

n.a.

n.a.

7300

male/33y

PBL

47,XY,+mar

NGS: No obvious abnormal was detected. AZF: normal. SRY: positive.

Asthenospermia,teratospermia.

n.a.

n.a.

80039

male/33y

PBL

47,XY,+mar

NGS: A 0.46 Mb section deleted in 6q12, no pathopoiesia information.

Infertile,asthenospermia.

n.a.

n.a.

81882

female/15y

PBL

46,X,mar[11]/45,X[9]

Primary amenorrhea

n.a.

n.a.

85773

male/32y

PBL

47,XY,+mar

NGS: No obvious abnormal was detected.

Infertile, azoospermatism.

n.a.

n.a.

90074

female/9 m

PBL

45,X [8]/46,X,+mar[19]

NGS: 45,X

Hypoevolutism

n.a.

n.a.

91473

female/20y

PBL

46,X,+mar[11]/45,X[10]

SRY: negtive

Primary amenorrhea.Vestigial uterus.

n.a.

n.a.

92243

female/34y

PBL

47,XX,+mar[19]/46,XX[13]

NGS: No obvious abnormal was detected.

Infertile

n.a.

n.a.

92638

female/25y

PBL

45,X,+mar[1]/46,XX [16]/47,XX,+mar[3]

Infertile

n.a.

n.a.

93162

n.a./9 m

PBL

45,X [11]/46,X,+mar [9]

Gynandromorphism

n.a.

n.a.

96704

female/2y

PBL

45,X [17]/46,X,+mar[13]

Pygmyism

n.a.

n.a.

97858

male/30y

PBL

47,XY,+mar

AZF: normal. SRY: positive

Infertile, azoospermatism.

n.a.

n.a.

W00311

female/30y

PBL

47,XX,+mar

NGS: A 0.14 Mb section deleted in 2q32.1, no pathopoiesia information.

G1P0 embryonic stop develop at 11 weeks.

n.a./47,XX, + mar

maternal

W00880

female/53y

PBL

47,XX,+mar

W00311’s mother

n.a.

n.a.

W02523

female/21y

PBL

47,XX,+mar[2]/46,XX[23]

G4P0. Habitual abortion, arrested embryo.

n.a.

n.a.

W03572

female/7 m

PBL

47,XX,+mar[1]/46,XX[29]

Develop delay.

n.a.

n.a.

W06115

female/30y

PBL

47,XX,+mar

G3P1. Arrested embryo twice.

n.a.

n.a.

W06490

female/29y

PBL

47,XX,+mar[26]/46,XX[12]

G2P0. Arrested embryo twice.

n.a.

n.a.

W07384

male/30y

PBL

47,XY,+mar[3]/46,XY[36]

Spouse had one time hydatidiform mole.

n.a.

n.a.

W13749

female/4y

PBL

47,XX,+mar

Developmental retardation.

n.a.

n.a.

W13804

male/18 m

PBL

45,X[12]/46,X,+mar[18]

Hypospadia

n.a.

n.a.

W14357

female/28y

PBL

47,XX,+mar

Pregnant preparation

n.a.

n.a.