Table 1 Summary of cytogenetic, CMA and FISH findings in sSMCs
Case# | Cytogenetic Results/Mosaicism | De novo/Inherited | CMA results /CNV classification | FISH Results | Clinical features/Reason of study/Chromosome abnormality syndrome | Outcome/Pregnancy outcome |
|---|---|---|---|---|---|---|
P1 | 47,XX,+mar The sSMC was C-banding positive, N-banding positive | dn | Fail to detect the chromosome origin | N.D. | AMA, reproductive history of child with autism, fetal BPD and HC values were 2 standard deviations below the mean | TP |
P2 | mos 47,XY,+mar[5]/46,XY [45] | dn | Arr [GRCh37]7q11.23(74,175,031_74,566,129) × 1,10q11.22q11.23(49,730,919_50,395,827) × 3,10q26.13q26.3(124,383,733_135,426,386) × 2~3,14q23.2(63,970,519_64,284,284) × 1,Yp11.2(7643,38_8,808,561) × 2 VOUS | N.D. | Phenotypically normal couple with missed abortion, the pregnant women had a karyotype of 46,XX,inv.(7) (q22q31.3), CVS revealed a karyotype of mos 47,XY,+mar [5]/46,XY[45] | IA |
P3 | mos 47,XY,+mar[39]/46,XY[11] | dn | CMA analysis revealed a 16.9 Mb heterozygous duplication in the 8p12-8q11.21 region, encompassing multiple OMIM genes such as TT12 and PRKDC associated with mental delay; WHSC1L1 is associated with acute myeloid leukemia. According to the ISCA database, this duplicated region can lead to speech loss. PCNV | N.D. | Abnormal second-trimester MSS with a down syndrome risk of 1/120, CVS revealed a karyotype of mos 47,XX,+mar[22]/46,XX[19] | TP |
P4 | mos 46,X,+mar[33]/45,X [21]/46,X,del(X)(q23)[9] | dn | Arr [GRCh37]2q32.1q32.2(189,194,304_190,487,242) × 3,Xp22.12p11.21(21,782,384_56,905,943) × 1,Xq12q28(65,783,010_155,160,723) × 1 PCNV | N.D. | Phenotypically normal couple with missed abortion twice, CVS revealed a karyotype of mos 46,X,+mar[33]/45,X [21]/46,X,del(X)(q23)[9] TS | IA |
P5 | 47,XX,+mar | N.D. | Fail to detect the chromosome origin | N.D. | Female infertility, cytogenetic analysis of the peripheral blood lymphocytes revealed a karyotype of 47,XX,+mar | FI |
P6 | mos 46,X,+mar[43]/45,X [7] The sSMC was C-banding negative. | dn | Arr [GRCh37]Xp22.33 or Yp11.32p11.31(168,551_2,693,467 or 118,551_2,643,467) × 4,Xq28 or Yq12(154,941,868_155,233,098) or (59,044,874_59,336,104) × 1,Yp11.31q11.221(2,650,424_18,016,216) × 4,Yq11.221q11.23(18,047,379_28,799,654) × 0 PCNV | N.D. | AMA, amniocentesis revealed a karyotype of mos 46,X,+mar [16]/45,X[30], percutaneous umbilical blood sampling revealed a karyotype of mos 46,X,+mar[43]/45,X [7], detection of SRY and AZF microdeletion showed that SRY positive, AZFa existed, while AZFb and AZFc micro-deletions occurred in the fetal cord blood, ultrasound scan shows it is a male fetus | TP |
P7 | mos 45,X [24]/46,X,+mar [12] | dn | Fail to detect the chromosome origin | N.D. | M Missed abortion, CVS revealed a karyotype of mos 45,X [24]/46,X,+mar [12] TS | IA |
P8 | 47,XX,+mar | dn | Arr [GRCh37]22q11.1q11.21(16,888,899_18,649,190) × 4 PCNV | 47,XX,+mar. ish idic(22)(q11.2)(RP11-958H20++) | AMA, fetal ventricular septal defect, dysplasia of aorta, echogenic intracardic focus, single umbilical artery, amniocentesis revealed a karyotype of 47,XX,+mar. Cat Eye Syndrome | TP |
P9 | mos 47,XY,+mar [8]/46,XY[42] | dn | Arr [GRCh37]1q21.3(151,917,498_152,861,866) × 3,1q21.3(153,286,503_153,976,253) × 3 VOUS | N.D. | Fetal right subclavicular artery vagus, amniocentesis revealed a karyotype of mos 47,XY,+mar [9]/46,XY[41], percutaneous umbilical blood sampling revealed a karyotype of mos 47,XY,+mar [8]/46,XY[42] | TP |
P10 | mos 47,XX,+mar [25]/46,XX [25] | dn | Arr [GRCh37]12p11.21q12(31,269,113_42,349,971) × 3 VOUS (likely PCNV) | N.D. | AMA, amniocentesis revealed a karyotype of mos 47,XX,+mar[36]/46,XX [13], percutaneous umbilical blood sampling revealed a karyotype of mos 47,XX,+mar [25]/46,XX [25] | TP |
P11 | mos 45,X [24]/46,X,+mar [26] | dn | Arr [GRCh37]Xp22.33q11.1(168,551_62,006,469) × 1,Xq21.31q28(87,685,781_155,233,098) × 1 PCNV | mos 45,X [24]/46,X,+mar [26].ish 45,X (DXZ1 × 1,SRY × 0[6]46,X,+mar.ish r(X)(DXZ1+) [8] | amniocentesis revealed a karyotype of mos 46,X,+mar[32]/45,X [28], percutaneous umbilical blood sampling revealed a karyotype of mos 45,X [24]/46,X,+mar [26] TS | TP |
P12 | mos 46,X,+mar[36]/46,XX [14] | dn | Arr [GRCh37]Xp22.33p11.21(168,551_56,661,860) × 1,Xq21.1q28(79,764,187_155,233,098) × 1 PCNV | N.D. | AMA, thickened nuchal fold (NF),strong echo in left ventricle, single umbilical artery, amniocentesis revealed a karyotype of mos 46,X,+mar[36]/46,XX [14] TS | TP |
P13 | mos 46,X,+mar [23]/46,XY [27] | dn | Arr [GRCh37]Xp22.33 or Yp11.32(168,551_2,019,878 or 118,551_1,969,878) × 3,Yp11.31q11.221(2,650,424_16,094,327) × 2,Yq11.221q11.23(16,189,079_28,799,654) × 0 PCNV | N.D. | Amniocentesis revealed a karyotype of mos 46,X,+mar[55]/46,XY[45], percutaneous umbilical blood sampling revealed a karyotype of mos 46,X,+mar [23]/46,XY [27] Fetal level III ultrasound findings were unremarkable | TP |
P14 | mos 47,XY,+mar [17]/46,XY[34] | dn | Arr[GRCh37]12p13.33p11.1(173,786_34,759,042) × 2~3,20p13p11.1(186,793_26,129,447) × 2~3 PCNV | N.D. | AMA, amniocentesis revealed a karyotype of mos 47,XY,+mar [13]/46,XY[37], percutaneous umbilical blood sampling revealed a karyotype of mos 47,XY,+mar [17]/46,XY[34] Mitral regurgitation + ~ + on fetal ultrasound | TP |
P15 | 47,XX,+mar | dn | Arr[GRCh37]12p13.33p11.1(173,786_34,835,641) × 4 PCNV | N.D. | AMA, enlarged nuchal translucency on fetal ultrasound Pallister-Killian syndrome | TP |
P16 | mos 45,X[43]/46,X,+mar [7] | dn | Arr[GRCh37]Yq11.221q11.222(17,082,004_19,927,040) × 2,Yq11.222q11.23(21,035,823_28,799,654) × 0 PCNV | mos 45,X[43]/46,X,+mar [7].ish 45,X(DXZ1x1,DYZ3x0) [22]/46,X,idic(Y)(q11.2?)(DXZ1x1,DYZ3× 2) [2]/ 47,X,idic(Y)(q11.2?)× 2(DXZ1x1,DYZ3x4) [1] | Abnormal second-trimester MSS for down syndrome with a risk of 1/238, fetal tricuspid regurgitation, wide right pulmonary artery diameter on fetal ultrasound, amniocentesis revealed a karyotype of mos 45,X[43]/46,X,+mar [7] TS | TP |
P17 | 47,XY,+mar | dn | N.D. | 47,XX,+mar. ish r(18)(D18Z1+) VOUS | Her daughter (P23) had a karyotype of mos 47,XX,+mar[44]/46,XX [6] Phenotypically normal | H |
P18 | 47,XX,+mar | dn | Arr[GRCh37]16p11.2(32,024,388_33,800,323) × 3 Benign (refused trios analysis) | N.D. | AMA, amniocentesis revealed a karyotype of 47,XX,+mar | CP |
P19 | mos 45,X[33]/46,X,+mar [18] | dn | Arr[GRCh37](X) × 1 PCNV | N.D. | Enlarged nuchal translucency on fetal ultrasound, NIPT suggested sex chromosome aneuploidy, amniocentesis revealed a karyotype of mos 45,X[33]/46,X,+mar [18] TS | TP |
P20 | mos 47,XY,+mar [2]/46,XY[48] | dn | Arr[GRCh37]12p13.33p11.1(173,786_34,835,641) × 3 PCNV | N.D. | Amniocentesis revealed a karyotype of mos 47,XY,+mar [5]/46,XY[45], percutaneous umbilical blood sampling revealed a karyotype of mos 47,XY,+mar [2]/46,XY[48] Trisomy 12p13.33p11.1 | TP |
P21 | 46,XX,-18,+mar | dn | Arr[GRCh37]18p11.32p11.31(136,227_3,348,254) × 1, 18p11.31p11.21(3,350,736_13,083,388) × 3,18p11.21(13,090,666_15,170,636) × 1,18p11.21q21.31(15,181, 207_54,008,143) × 3,18q21.31q23(54,020,488_78,013,728) × 1 PCNV | N.D. | Fetal aorta constriction, pulmonary artery stenosis after dilation, ventricular septal defect on fetal ultrasound, NIPT suggests partial deletion in chromosome 18 | TP |
P22 | 47,XX,+mar | dn | Fail to detect the chromosome origin | N.D. | Female infertility for 4 years | PI |
P23 | mos 47,XX,+mar[44]/46,XX [6] | MI | N.D. | mos 47,XX,+mar[44]/46,XX [6].ish mar(D18Z1+) [14]/46,XX [1] VOUS | Arcuate uterus, Mternal karyotype was 47,XX,+mar, presented with an adverse pregnancy outcome (premature labor occurred at 28 weeks of gestation, and a 1015 g female baby with hydrocephalus and severe asphyxia was delivered stillborn), amniocentesis revealed a karyotype of mos 47,XX,+mar[44]/46,XX [6] | SI |
P24 | mos 45,X[30]/46,X,+mar [16] | dn | Arr[GRCh37]19p13.3(633,754_1,230,420) × 3,Xp22.33p11.21(168,551_57,994,702) × 1,Xp11.21q12(58,053,772_66,837,037) × 1,Xq12q28(66,896,948_155,233,098) × 1 PCNV | N.D. | PA, normal stature, infantile uterus, seizures, abnormal thyroid function TS | PA |
P25 | mos 47,XX,+mar [14]/46,XX [36] | dn | Fail to detect the chromosome origin | mos 47,XX,+mar [14]/46,XX[36].ish mar(D15Z1-)[15]46,XX [15] | Abnormal second-trimester MSS for down syndrome with a risk of 1/200,amniocentesis revealed a karyotype of mos 47,XX,+mar [15]/46,XX[35], percutaneous umbilical blood sampling revealed a karyotype of mos 47,XX,+mar [14]/46,XX[36] | CP |
P26 | mos 45,X[45]/46,X,+mar [5] | dn | Arr[GRCh37](X) × 1 PCNV | N.D. | PA, orally -administered climen can still menstruate at 20 years old but small amount, short stature (147 cm), bilateral breast development is good, infantile uterus TS | PI |
P27 | mos 47,XX,+mar[39] /46,XX [11] | dn | Arr[GRCh37]9p24.3q13(208,454_68,216,577) × 4 PCNV | N.D. | FGR at 28+ 3 weeks of gestation, percutaneous umbilical blood sampling revealed a karyotype of mos 47,XX,+mar[39]/46,XX [11] Mosaic tetrasomy 9p | TP |
P28 | 47,XY,+mar | dn | Fail to detect the chromosome origin | N.D. | His wife underwent RSA, cytogenetic analysis of the peripheral blood lymphocytes revealed a karyotype of 47,XY,+mar | SS |
P29 | 47,XN,+mar | dn | Fail to detect the chromosome origin | N.D. | AMA, posterior fossa cistern widened, renal pelvis separated on fetal ultrasound, amniocentesis revealed a karyotype of 47,XN,+mar | CP |
P30 | 47,XN,+mar The sSMC was C-banding positive, N-banding positive. | dn | Fail to detect the chromosome origin | N.D. | Abnormal second-trimester MSS for down syndrome with a down syndrome risk of 1//263, amniocentesis revealed a karyotype of 47,XN,+mar. Fetal level III ultrasound findings were unremarkable | CP |
P31 | mos 47,XY,+mar [3]/46,XY[58] | dn | Fail to detect the chromosome origin | N.D. | AMA, poliomyelitis, fetal HL and FL values were less than gestational weeks on fetal ultrasound at 22 weeks of gestation, amniocentesis revealed a karyotype of mos 47,XY,+mar [3]/46,XY[58] | CP |