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Table 1 Chromosome, CMA and CNV-seq results on mosaic cases of autosomal aneuploidies, sex chromosome aneuploidy and large cryptic genomic rearrangements

From: Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

Number Case No Sample type Age Indication Chromosome
(culture) Result
Copy number of reference chromosome
Karyotyping CMA CNV-seq
Mosaic cases of autosomal aneuploidies
 1 2 AF 28 Abnormal NIPS (T21) 47, XX, + 21[21]/46, XX [79] 2.21 (Chr 21) 2.29 (Chr 21) 2.22 (Chr 21)
 2 4 AF 43 AMA, hMSS (T21), abnormal NIPS (T21) 47, XY, + 21[13]/46, XY [37] 2.26 (Chr 21) 2.20 (Chr 21) 2.20 (Chr 21)
 3 6 AF 36 AMA, abnormal NIPS (T21) 47, XX, + 21[22]/46, XX [78] 2.22 (Chr 21) 2.29 (Chr 21) 2.27 (Chr 21)
 4 7 AF 30 Abnormal NIPS (T21) 47, XX, + 21[45]/46, XX [5] 2.90 (Chr 21) 3.00 (Chr 21) 2.92 (Chr 21)
 5 8 AF 31 Abnormal NIPS (T21) 47, XY, + 21[31]/47, XY [19] 2.62 (Chr 21) 2.72 (Chr 21) 2.79 (Chr 21)
 6 12 AF 39 AMA, hMSS (T21) 47, XX, + 21[41]/46, XX [59] 2.82 (Chr 21) 3.00 (Chr 21) 2.78 (Chr 21)
 7 13 AF 34 aUS (talipes valgus) 47, XY, + 18[33]/46, XY [17] 2.66 (Chr 18) 2.64 (Chr 18) 2.56 (Chr 18)
 8 14 AF 39 AMA, abnormal NIPS (T18) 47, XY, + 18[44]/46, XY [6] 2.88 (Chr 18) 2.78 (Chr 18) 2.67 (Chr 18)
 9 16 AF 41 AMA, abnormal NIPS (T15) 47, XX, + 15[4]/46, XX [96] 2.04 (Chr 15) 2.30 (Chr 15) 2.32 (Chr 15)
 10 17 AF 39 AMA, abnormal NIPS (T15) 47, XY, + 15[12]/46, XY [88] 2.12 (Chr 15) 2.49 (Chr 15) 2.36 (Chr 15)
 11 19 AF 36 AMA, abnormal NIPS (T22) 47, XX, + 22,1qh+[4]/46, XX, 1qh+[96] 2.04 (Chr 22) 2.22 (Chr 22) 2.16 (Chr 22)
 12 22 AF 34 hMSS (T18), aUS (IUGR) 47, XX, + 2[3]/46, XX [97] 2.03 (Chr 2) 2.28 (Chr 2) 2.22 (Chr 2)
 13 1 AF 27 Abnormal NIPS (T21) 47, XY, + 21[4]/46, XY [96] 2.04 (Chr 21) Normal 2.10 (Chr 21)
 14 3 AF 33 Abnormal NIPS (T21) 47, XY, + 21[6]/46, XY [94] 2.06 (Chr 21) Normal 2.14 (Chr 21)
 15 5 AF 32 Abnormal NIPS (T21) 47, XX, + 21[9]/46, XX [91] 2.09 (Chr 21) Normal 2.07 (Chr 21)
 16 9 AF 31.5 Abnormal NIPS(T10) 47, XX, + 21[3]/46, XX [97] 2.03 (Chr 21) Normal 2.08 (Chr 21)
 17 10 AF 24 hMSS (T21) 47, XX, + 21[3]/46, XX [97] 2.03 (Chr 21) Normal 2.05 (Chr 21)
 18 15 AF 41 AMA, abnormal NIPS (T13) 47, XY, + 13[16]/46, XY [84] 2.16 (Chr 13) Normal 2.10 (Chr 13)
 19 11 AF 39 AMA, abnormal NIPS (T21) 47, XY, + 21[5]/46, XY [95] 2.05 (Chr 21) Normal Normal
 20 20 AF 28 aUS (increased NF) 47, XY, + 9[7]/46, XY [43] 2.14 (Chr 9) Normal Normal
 21 21 AF 31 Previous pregnancy with CHD 47, XX, + 20[12]/46, XX [58] 2.17 (Chr 20) Normal Normal
 22 18 AF 31 Abnormal NIPS (T8) 46, XX, 9qh +  Normal(Chr 8) 2.24 (Chr 8) 2.18 (Chr 8)
Mosaic cases of sex chromosome aneuploidy
 23 24 AF 31 Abnormal NIPS (X-) 45, X [2]/46, XX [48] 1.96(Chr X)/0 (Chr Y) 1.80 (Chr X)/0 (Chr Y) 1.87 (Chr X)/0 (Chr Y)
 24 29 CB 33 aUS (oligohydramnios) 45, X [8]/46, XX [95] 1.92 (Chr X)/0 (Chr Y) 1.80 (Chr X)/0 (Chr Y) 1.82 (Chr X)/0 (Chr Y)
 25 31 AF 28 Abnormal NIPS (X-) 45, X [13]/46, XX [87] 1.87 (Chr X)/0 (Chr Y) 1.80 (Chr X)/0 (Chr Y) 1.85 (Chr X)/0 (Chr Y)
 26 33 AF 30 Abnormal NIPS (X-) 45, X [15]/46, XX [85] 1.85(Chr X)/0 (Chr Y) 1.78 (Chr X)/0 (Chr Y) 1.82 (Chr X)/0 (Chr Y)
 27 34 AF 31 Abnormal NIPS (X-) 45, X [8]/46, XX [42] 1.84(Chr X)/0 (Chr Y) 1.62 (Chr X)/0 (Chr Y) 1.68 (Chr X)/0 (Chr Y)
 28 35 AF 30 hMSS (T21), abnormal NIPS (X-) 45, X [16]/46, XY [84] 1.84(Chr X)/0 (Chr Y) 1.80 (Chr X)/0 (Chr Y) 1.79 (Chr X)/0 (Chr Y)
 29 38 AF 38 AMA, abnormal NIPS (X-) 45, X [15]/46, XX [65] 1.81(Chr X)/0 (Chr Y) 1.43 (Chr X)/0 (Chr Y) 1.48 (Chr X)/0 (Chr Y)
 30 39 AF 28 hMSS (T21), abnormal NIPS (X-) 45, X [20]/46, XX [80] 1.80(Chr X)/0 (Chr Y) 1.74 (Chr X)/0 (Chr Y) 1.72 (Chr X)/0 (Chr Y)
 31 40 AF 28 Abnormal NIPS (X-) 45, X [23]/46, XX [77] 1.77(Chr X)/0 (Chr Y) 1.62 (Chr X)/0 (Chr Y) 1.54 (Chr X)/0 (Chr Y)
 32 42 AF 29 Abnormal NIPS (X-) 45, X [29]/46, XX [71] 1.71(Chr X)/0 (Chr Y) 1.73 (Chr X)/0 (Chr Y) 1.79 (Chr X)/0 (Chr Y)
 33 44 AF 42 AMA, hMSS (T21), abnormal NIPS (X-) 45, X [16]/46, XX [84] 1.84(Chr X)/0 (Chr Y) 1.80 (Chr X)/0 (Chr Y) 1.84 (Chr X)/0 (Chr Y)
 34 45 AF 28 hMSS (T21), abnormal NIPS (X-) 45, X [13]/46, XX [27] 1.68(Chr X)/0 (Chr Y) 1.45 (Chr X)/0 (Chr Y) 1.53 (Chr X)/0 (Chr Y)
 35 47 AF 37 AMA, aUS(increased NT and NF) 45, X [51]/46, XY [9] 1.00(Chr X)/0.15 (Chr Y) 1.00 (Chr X)/0.5 (Chr Y) 1 (Chr X)/0.45 (Chr Y)
 36 48 AF 32 hMSS (T21), abnormal NIPS (X-) 45, X [27]/47, XXX [23] 1.92 (Chr X)/0 (Chr Y) 1.70 (Chr X)/0 (Chr Y) 1.83 (Chr X)/0 (Chr Y)
 37 49 AF 28 Abnormal NIPS (X-) 45, X [34]/47, XXX [16] 1.64 (Chr X)/0 (Chr Y) 1.53 (Chr X)/0 (Chr Y) 1.70 (Chr X)/0 (Chr Y)
 38 50 AF 32 Abnormal NIPS (X-) 45, X [48]/47, XXX [2] 1.08 (Chr X)/0 (Chr Y) 1.20 (Chr X)/0 (Chr Y) 1.46 (Chr X)/0 (Chr Y)
 39 51 AF 28 aUS(increased NT) 45, X [32]/47, XXX [18] 1.72 (Chr X)/0 (Chr Y) 1.40 (Chr X)/0 (Chr Y) 1.59 (Chr X)/0 (Chr Y)
 40 52 AF 33 hMSS (T21), abnormal NIPS (X-) 45, X [23]/47, XXX [77] 2.54 (Chr X)/0 (Chr Y) 2.51 (Chr X)/0 (Chr Y) 2.58 (Chr X)/0 (Chr Y)
 41 53 AF 40 AMA, previous pregnancy with DMD 45, X [12]/47, XYY [88] 1.00 (Chr X)/1.76 (Chr Y) 1.00 (Chr X)/2.00 (Chr Y) 1 (Chr X)/1.59 (Chr Y)
 42 55 AF 28 hMSS (T21), abnormal NIPS (X-) 45, X [17]/47, XXX [10]/
46, XX [23]
1.86(Chr X)/0 (Chr Y) 2.22 (Chr X)/0 (Chr Y) 2.18 (Chr X)/0 (Chr Y)
 43 57 AF 37 AMA, abnormal NIPS (X +) 47, XXY [31]/46, XY [19] 1.62 (Chr X)/1.00 (Chr Y) 1.58 (Chr X)/1.00 (Chr Y) 1.63 (Chr X)/1.00 (Chr Y)
 44 58 AF 25 Abnormal NIPS (T9) 47, XXY [39]/46, XY [11] 1.78 (Chr X)/1.00 (Chr Y) 1.53 (Chr X)/1.00 (Chr Y) 1.66 (Chr X)/1.00(Chr Y)
 45 59 AF 38 AMA, abnormal NIPS (X +) 47, XXY [46]/46, XY [4] 1.92 (Chr X)/1.00 (Chr Y) 2 (Chr X)/1.00 (Chr Y) 2 (Chr X)/1.00 (Chr Y)
 46 60 AF 30 Abnormal NIPS (X +) 47, XXY [30]/46, XY [20] 1.60 (Chr X)/1.00 (Chr Y) 1.64 (Chr X)/1.2 (Chr Y) 1.70 (Chr X)/1.00 (Chr Y)
 47 62 AF 29 hMSS (T21) 47, XYY [26]/46, XY [24] 1.00 (Chr X)/1.52 (Chr Y) 1(Chr X)/1.70 (Chr Y) 1(Chr X)/1.76 (Chr Y)
 48 25 AF 31 Abnormal NIPS (X-) 45, X [4]/46, XX [96] 1.96(Chr X)/0 (Chr Y) Normal 1.89 (Chr X)/0 (Chr Y)
 49 28 AF 34 hMSS (T21), abnormal NIPS (X-) 45, X [7]/46, XX [93] 1.93 (Chr X)/0 (Chr Y) Normal 1.92 (Chr X)/0 (Chr Y)
 50 36 AF 39 AMA, hMSS (T21), abnormal NIPS (X-) 45, X [13]/46, XX [67] 1.84(Chr X)/0 (Chr Y) Normal 1.92 (Chr X)/0 (Chr Y)
 51 37 CB 30 Abnormal NIPS (X-), aUS(IUGR) 45, X [19]/46, XY [86] 1.00(Chr X)/0.82 (Chr Y) Normal 1.00(Chr X)/0.92 (Chr Y)
 52 41 AF 27 hMSS (T21), abnormal NIPS (X-) 45, X, 1qh+ [24]/
46, XX, 1qh+ [76]
1.76(Chr X)/0 (Chr Y) Normal 1.92 (Chr X)/0 (Chr Y)
 53 43 AF 39 AMA, failed NIPS 45, X [19]/46, XY [42] 1.00(Chr X)/0.69 (Chr Y) Normal 1 (Chr X)/0.77 (Chr Y)
 54 46 AF 28 Abnormal NIPS (X-) 45, X [6]/46, XX [94] 1.94(Chr X)/0 (Chr Y) Normal 1.92 (Chr X)/0 (Chr Y)
 55 54 CB 22 aUS (oligohydramnios and abnormal soft marker) 45, X [29]/47, XYY [51] 1.00 (Chr X)/1.28 (Chr Y) Normal 1 (Chr X)/0.8 (Chr Y)
 56 56 AF 35 AMA, abnormal NIPS (X +) 47, XXY [28]/46, XY [72] 1.28 (Chr X)/1.00 (Chr Y) Normal 1.15 (Chr X)/1.00 (Chr Y)
 57 23 AF 32 aUS (increased NF), Abnormal NIPS (X-) 45, X [4]/46, XX [100] 1.96(Chr X)/0 (Chr Y) Normal Normal
 58 26 AF 23 hMSS (T18), abnormal NIPS (X-) 45, X [5]/46, XX [95] 1.95 (Chr X)/0 (Chr Y) Normal Normal
 59 27 AF 38 AMA 45, X [1]/46, XY [49]
45,X[4]/46,XY[69] ǂ
1.98 (Chr X)/0 (Chr Y) Normal Normal
 60 30 AF 37 AMA, abnormal NIPS (X-) 45, X [9]/46, XX [91] 1.91 (Chr X)/0 (Chr Y) Normal Normal
 61 32 AF 28 Previous pregnancy with duplication of 11p15.5p15.4 (3.6 Mb) 45, X [14]/46, XY [90] 1.00 (Chr X)/0.87 (Chr Y) Normal Normal
 62 61 CB 31 Abnormal NIPS (X +) 47, XXX [3]/46, XX [47] 2.06 (Chr X)/0 (Chr Y) Normal Normal
Mosaic cases of large cryptic genomic rearrangements
 63 63 CB 33 hMSS (T21), aUS (VSD) 46, XX / arr[hg19]8p21.3p11.21(19,832,920–41,268,763) × 2.23 seq[hg19] dup(8)(p22-p11.1) chrX:g.18500000–43,800,000 dup 25.3 Mb × 2.23
 64 64 AF 29 hMSS (T21), abnormal NIPS (X-) 45, X [25]/46, X, del(X)(q21.2) [25] / arr[hg19] Xq21.31q28(91,397,723–155,233,098) × 1
arr [hg19] Xp2.33q21.31(1,832,912–87,597,750) × 1.51
arr[hg19](Y) × 0
seq[hg19] dup(X)(p22.33q21.31)
chrX:g.2700000–90,720,000 dup 84.86 Mb × 1.53
seq[hg19] dup(X)(q21.31q28) chrX:g.90720000–154,940,000 dup 64.22 Mb × 1.042
seq[hg19](Y) × 0
 65 65 AF 23 aUS (increased NT) 46, X, Yp+ [29]/45, X [21] / arr[hg19]Yq11.222q11.223(20,885,550–24,889,194) × 2 seq[hg19] dup(Y)(q11.221q11.223) chrY:g.19,520,000–24,520,000 dup 5.00 Mb × 2
 66 66 AF 29 Abnormal NIPS (X-) 46, X, + mar [34]/45, X [16] / arr[hg19] Xp22.33p11.21
(168,551–55,476,636) × 1
arr[hg19] Xq13.2q28
(72,016,380–155,233,098) × 1
arr[hg19](Y) × 0
seq[hg19] del(X)(p22.33p11.21) chrX:g.2,700,000–55,560,000 del 52.86 Mb × 1.042
seq[hg19] del(X)(q13.2q28) chrX:g.72,200,000–154,940,000 del 82.74 Mb × 1.05
arr[hg19](Y) × 0
 67 67 AF 27 Abnormal U/S (increased NT) 48, XX, + idic(X)(p11.2), + 21 [43]/47, XX, + 21 [7] / arr(21) × 3
arr[hg19] Xp11.21q28
(57,435,464–155,233,098) × 4
seq[hg19]dup(21)(q11.2q22.3) chr21:g.14300000_48129895 dup 32.26 Mb × 2.971
seq[hg19]dup(X)(p22.31q28) chrX:g.6100000–154,940,000 dup 93.72 Mb × 3.111
  1. CMA, chromosomal microarray analysis; AF, amniotic fluid; AMA, advance maternal age; aUS, abnormal ultrasound; NT, nuchal translucency; T21, trisomy 21; hMSS, high-risk of maternal serum screening; NIPS, non-invasive prenatal screening; T13, trisomy 13; CHD, congenital heart disease; IUGR, intrauterine growth retardation; N/A, not available
  2. ǂKaryotypes from two independent laboratories. (pseudo mosaicism)