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Table 1 Summary of cytogenetic, CMA and FISH findings in sSMCs

From: Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis

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
  1. Dn de novo, N. D not done, AMA advanced maternal age, FGR fetal growth restriction, TP termination of pregnancy, sSMC small supernumerary marker chromosome, PCNV pathogenic copy number variation, CP continue the pregnancy, TS turner syndrome, MSS maternal serum screening, NIPT non-invasive prenatal testing, CVS chorionic villus sampling, IA induced abortion, SS secondary sterility, PI primary infertility, PA primary infertility, SI secondary infertility, H healthy, FI female infertility, MI maternally inherited, RSA recurrent spontaneous abortion, BPD biparietal diameter, HC head circumference, HL humerus length, FL femur length, AZF azoospermia factor, SRY sex-determining region on the Y chromosome