€¦ · Web viewGenome Sequencing Explores Complexity of Chromosomal Abnormalities. in . R. ecurrent . M. iscarriage. Zirui Dong, Ph.D.,1,2,3,4,22 Junhao Yan, M.D.,1,5,6,22 Fengping
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Genome Sequencing Explores Complexity of Chromosomal Abnormalities
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Description of Supplemental Data
Supplemental Data include 16 figures and eight tables.
Low-pass GSa Additional diagnosis in couples by low-pass GSa
Apparently balanced translocation 80* (7.4%, 95 CI, 5.9 to 9.2) 78 (7.2%, 95 CI, 5.8 to 9.0) 8 (0.7%, 95 CI, 0.3 to 1.5)
Inversions 6 (0.6%, 95 CI, 0.2 to 1.2) 48 (4.5%, 95 C.I., 3.4 to 5.9) 42 (3.9%, 95 CI, 2.9 to 5.2)
CNVs
Pathogenic or likely pathogenic CNVs
0 (0%, 95 CI, 0 to 0.3) 6 (0.6%, 95 CI, 0.2 to 1.2) 6 (0.6%, 95 CI, 0.2 to 1.2)
VUS 0 (0%, 95 CI, 0 to 0.3) 12 (1.1%, 95 CI, 0.6 to 1.9) 12 (1.1%, 95 CI, 0.6 to 1.9)
Overall chromosomal structural variants^ 86* (8%, 95 CI, 6.4 to 9.8) 126 (11.7%, 95 CI, 9.9 to 13.8) 50 (4.6%, 95 CI, 3.5 to 6.1)
aCalculation was performance based on couples; *Including 10 samples with balanced translocations that were not detected by low-pass GS (Table S2); ^Only translocations and inversions were calculated.
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Table 3. Eight translocations only reported by low-pass GS
Sample IDa Karyotype Low-pass GS Length of translocated segments Suspected reasons of missed detection by chromosome analysisChrA (Mb) ChrB (Mb)
SD-RSA_10835Y 46,XX 46,XX,t(12;21)(p11.21;q21.1) 31.6 30.2 Similar banding patterns
SD-RSA_10949 46,XX 46,XX,t(2;17)(q37.3;p11.2) 3.2 16.8 Involving G light band
SD-RSA_11359Y 46,XX 46,XX,t(5;14)(p13.2;q24.2) 38.1 35.7 Similar banding patterns
SD-RSA_20504 46,XY 46,XY,t(20;21)(p12.1;q22.11) 13.5 13.7 Similar banding patterns
SD-RSA_21394 46,XY 46,XY,t(2;21),der(2)t(2;21)
(p24.3;q21.3),der(21)t(2;21)
(p24.3;q21.3),
inv(21)(q21.1q21.3)
13.2 20.9 Involving G light band
SD-RSA_22134N 46,XY 46,XY,t(1;19)(p36.22;q13.2) 16.1 12.6 Similar banding patterns
aY or N refer to couple with miscarriage(s) or fetal structural abnormalities identified in subsequent pregnancy following cytogenetic testing with normal reports.