Table 1 The information of 27 identified sSMC patients

61166^a

male/14 m

PBL

45,X[2]/46,X,+mar[15]

del(Y)(pter→q11.222::q11.223→qter), first report

NGS:del(Y)(p11.2)×0.5 (2.7 Mb), del(Y)(q11.222→q11.223)×0 (2.2 Mb). AZF b, −d and -c regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 2:1. SRY (Yp11.31): positive.

Hypospadias, right cryptorchidism,term birth (BW 2.15 kg). He performed the corrective surgery before karyotyping report.

n.a.

n.a.

W02938

male/13 m

PBL

45,X[26]/46,X,+mar[19]

min(Y) with SRY

STR:AMEL(Xp22.2:Yp11.2): 2:1. SRY (Yp11.31): positive. DYS448(Yq11.223): negative.

Hypospadia, congenital testicular hypoplasia. His small penis was bent towards the abdomen side, and showed phimosis.

n.a.

n.a.

69433

female/6y

PBL

45,X[13]/46,X,+mar[8]

min(Y)

MLPA: Y was abnormal.

Pygmyism, asitia. H:106 cm, W:17.2 kg, BW:2.9 kg.

n.a.

n.a.

61680

male/29y

PBL

46,X,mar[9]/46,XY[9]

min(Y) with SRY

AZF-d and -c regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 1:1. SRY (Yp11.31): positive.

Azoospermatism

n.a.

n.a.

62091

male/31y

PBL

45,X[8]/46,X,mar[7]

min(Y) with SRY

AZF-b, −d and -c regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 1:1. SRY (Yp11.31): positive.

Azoospermatism

n.a.

n.a.

77297

male/26y

PBL

46,X,+mar

min(Y) with SRY

AZF all regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 1:1. SRY (Yp11.31): positive.

Azoospermatism

n.a.

n.a.

80794

male/32y

PBL

46,X,+mar1[4]/46,X,+mar2[7]/47,X,+mar3,+mar4[12]

min(Y) with SRY

AZF-b,-d and -c regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 1:1. SRY (Yp11.31): positive.

Azoospermatism, infertile

n.a.

n.a.

98139

male/28y

PBL

46,X,+mar?

min(Y) with SRY

AZF all regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 1:1. SRY (Yp11.31): positive.

Infertile, azoospermatism.

n.a.

n.a.

W01824

male/31y

PBL

45,X [15]/46,X,+mar[10]

min(Y) without SRY

AZF all regions: deleted. STR:AMEL (Xp22.2:Yp11.2): 2:1. SRY (Yp11.31): negative.

Infertile, azoospermatism. He had undergone remedial surgery for hypospadias and cryptorchidism when he was 5 years old. Magnetic resonance imaging (MRI) showed right spermatophore hypogenesis, and left spermatophore containing a mass.

n.a.

n.a.

150677

n.a./prenatal

AF

45,X[1]/46,X,+mar[19]

min(Y) with SRY

STR:AMEL (Xp22.2:Yp11.2): 1:1. SRY (Yp11.31): positive. DYS448(Yq11.223): positive.

NIPT indicated abnormal heterosomes. Gravida was G4P1,and had nature labour twice. Spousal AZF regions was normal.

38/46,XX;46,XY

de novo

162047

n.a./prenatal

AF

46,X,+mar(Y?)

min(Y) with SRY

STR:AMEL (Xp22.2:Yp11.2): 1:2. SRY (Yp11.31): positive. DYS448(Yq11.223): negative.

NIPT indicated abnormal heterosome. Gravida was G2P1.

33/n.a.

n.a.

171276^a

n.a./prenatal

AF

45,X[2]/47,X,+mar1,+mar2[1]/46,X,+mar1[47]

mar1: min(Y)(:p11.31→qter), mar2: inv dul(Y)(q11.221→p11.31::p11.31→q11.221), first report

NGS: dup(Y)(p11.31→q11.221)×3, del(Y)(q11.221→q12)×1, mosaic 45,X. STR: AMEL(X:Y): 1:2. SRY (Yp11.31): positive. DYS448(Yq11.223): negative.

NT: 4.7 mm(> 3.0 mm). Gravida underwent NGS in another hospital.

24/46,XX.

n.a.

69813

male/6y

PBL

47,XY,+mar

inv dup(15)(q11.2 ~ 13.3), dul(15)q(13.3)

NGS: dup(15)(q11.2→q13.3)×4 (8.2 Mb), dup(15)q(13.3)×3 (1.6 Mb)

Hypoevolutism, hypophrenia, epilepsy. He could only say a few words. His EEG demonstrated epilepsy changes.

n.a.

n.a.

W03987

male/31y

PBL

47,XY,+mar

inv dup(15)(q11.2)

NGS: polymorphism dul(15)(q11.2)(22740001–23520000)×4 (0.78 Mb). AZF: normal. SRY: positive.

Infertile, asthenospermia.

n.a.

n.a.

W04210

female/25y

PBL

47,XX,+mar

min(15)(:q11.2→q13.1:)

NGS: dup(15)(q11.2→q13.1)×3 (5.64 Mb)

Hyperspasmia. She had hyperspasmia for twenty years. Her hyperspasmia occurred during sleep, with tongue biting, foaming at the mouth, and gatism, looking like epilepsy.

n.a.

n.a.

70532

male/2y

PBL

47,XY,+mar

inv dup(15)(q11.2)

MLPA: 3 points (two of SNRPN and one of UBE3A) of 15q11.2 were a heterozygous duplicated mutation.

Autism

n.a.

n.a.

83411

female/5y

PBL

47,XX,+mar

inv dup(15)(q11.2)

MLPA: 3 points of 15q11.2 were heterozygous duplicated mutation.

Hypoevolutism and mental retardation. She could not sit on her own at 1 year old and could not walk at 3 years old. MRI showed that her left lobus frontalis was partly demyelinated. Ultrasound of the heart revealed a ventricular septal defect, left to right ventricle shunt, wide coronary sinus, and persistent left superior vena cava.

n.a.

n.a.

96862

female/18 m

PBL

47,XX,+mar

inv dup(15)(q11.2)

MLPA: 3 points of 15q11.2 were heterozygous duplicated mutation.

Hypoevolutism. She could not walk steadily or pick up things with her fingers, and had poor communication. MRI of the cerebrum showed that both sides of the hemisphere were not full.

n.a.

n.a.

92568^a

female/12y

PBL

45,X[7]/46,X,+mar[13]

r(X)(::p11.23→q21.1::), first report

NGS: 45,X[57%]/46,X,r(X)(p11.23→q21.1)[43%]

She was suspected Turner syndrome, and injected GH for 1 year.

n.a.

n.a.

W09834^a

female/14 m

PBL

45,X[4]/46,X,+mar[26]

min(X)(:p11.2→q13.2:), first report

NGS: partly 45,X: X (pter→p11.21) x1, X(q13.2→qter)×1. SRY: negative.

Turner syndrome.

n.a.

n.a.

61259

male/57d

PBL

47,XY,+mar

inv dup(18)(pter→p11.21::p11.21→pter)

NGS: dup(18)(p11.32→p11.21)×4 (15.3 Mb)

Neonatal feeding problem, pneumonia. He had microcephaly, low-set ears and often gazed look.

n.a.

n.a.

172168

female/prenatal

AF

47,XX,+mar

inv dup(18)(pter→p11.21::p11.21→pter)

NGS: dup(18)(p11.32→p11.21)×4. STR: normal.

NIPT: the high risk of 18-trisomy syndrome (Edwards syndrome).

38/46,XX.

n.a.

96932^a

female/4y

PBL

45,X(21ps+) [14]/46,X,+mar,(21ps+)[6]

min(X), min(Y), first report

NGS: 45,X[65%]/46,XY[17%]/46,XX[18%]

Hypoevolutism. She grew slowly after birth, with W: 12.5 kg, H: 93 cm, (H/A ≤ 2SD). She had skin rash on the face, webbed neck, and short stature, looking like Turner syndrome. Her bone age was 3.5 years old, and 4 left carpals were sclerotized. Ultrasound showed vestige uterus and no ovary.

n.a.

n.a.

172990^a

female/prenatal

AF

47,XX,+mar

min(9)(pter→p13.1:), first report

NGS: dup(9)(p24.3→p13.1)×3. STR: normal.

NIPT indicated abnormal chrosome 9.

37/46,XX.

n.a.

70963^a

female/8y

PBL

47,XX,+mar(1qh+) [18]/46,XX(1qh+)[12]

min(20)(:p12.3→q11.22:), first report

NGS: mosaic duplication (20)(p12.3→q11.22)×3 (20.1 Mb)

Pygmyism,asitia. She had asitia and was sickly; W: 21.7 kg, H: 115.5 cm, H/A ≤ -2SD. Her 7 left carpals were sclerotized. Her mother’s height was 158 cm and father’s 178 cm. NGS was done at another hospital.

n.a.

n.a.

160246^a

female/prenatal

AF

160246: 47,XX,+mar

min(11)(:q23.3→qter), first report

NGS: dup(11)(q23.3→q25)×3. STR: normal.

In 2016, her mother got pregnant (numbered 160246). Ultrasound showed that there was a fluid sonolucent area in the nuchal region of 160246. NGS performed at another hospital. In 2017, her mother got pregnant again (numbered 173026). The fetus carried the same balanced translocation, and his NGS results were normal.

29/46,XX,t(11;22)(q23;q12)46,XY

de novo

184290

male/prenatal

AF

47,XY,+mar

inv dup(22)(q11.1 ~ 11.21)

NGS:dup(22)(q11.21)×3(2.46 Mb), dup(22)(q11.1→q11.21)×4. STR: normal.

NT: 3.1 mm. Gravida aborted a fetus with congenital heart disease in 2017.

32/46,XX;46,XY

de novo