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BEBEGENE Results Statistics for Newborns
- Clinical Data

Between June 2021 and October 2022, total 24,816 newborns samples were collected for genetic analysis from clinical centers in South Korea. Our genome-wide SNP array chip targeting CNV-related chromosomal disorders was able to identify 464 cases (1.870%) of 92 CNV-associated chromosomal disorders from a total of 24,816 newborns. Table 2 summarizes the CNV-related chromosomal disorders involved in each case.

Table 2. Screening results for CNV-related chromosomal disorders in Korean population.

(
)
Diseases Cytoband Count %
16p13.11 duplication syndrome 16p13.11 49 0.197
17p13.3 telomeric duplication syndrome 17p13.3 33 0.133
22q11.2 duplication syndrome 22q11.2 33 0.133
Klinefelter syndrome chrX 24 0.097
Duchenne muscular dystrophy (DMD) Xp21.2-p21.1 19 0.077
Triple-X syndrome chrX 16 0.064
Xp22.31 microdeletion syndrome Xp22.31 15 0.06
1q21.1 deletion (distal) syndrome 1q21.1 14 0.056
16p13.11 deletion syndrome 16p13.11 14 0.056
16p11.2 duplication (distal) syndrome 16p11.2 13 0.052
16p11.2 duplication (proximal) syndrome 16p11.2 13 0.052
1q21.1 duplication (distal) syndrome 1q21.1 12 0.048
Down syndrome chr21 11 0.044
16p11.2 deletion (distal) syndrome 16p11.2 11 0.044
1q21.1 deletion (proximal) syndrome 1q21.1 11 0.044
17p12 deletion syndrome 17p12 9 0.036
16p11.2 deletion (proximal) syndrome 16p11.2 8 0.032
16p11.2 deletion (proximal) syndrome 16p11.2 7 0.028
Charcot-Marie-Tooth disease, type 1A (CMT1A) 17p12 7 0.028
22q11.2 deletion syndrome (LCR22 B/C-D) 22q11.21 7 0.028
DiGeorge/Velocardiofacial syndrome (CATCH22) 22q11.21 7 0.028
2q23.1 microdeletion syndrome 2q23.1 7 0.028
15q13.3 deletion syndrome (BP4 to BP5) 15q13.3 6 0.024
15q13.3 duplication syndrome 15q13.3 6 0.024
1q21.1 duplication (proximal) syndrome 1q21.1 6 0.024
2q13 deletion syndrome 2q13 6 0.024
17q12 duplication syndrome 17q12 5 0.02
2p16.3 deletion syndrome 2p16.3 4 0.016
Prader-Willi/Angelman Syndrome (BP1-BP3) 15q11.2-q13.1 4 0.016
18p deletion syndrome 18p 4 0.016
2q11.2 deletion syndrome 2q11.2 3 0.012
Turner syndrome chrX 3 0.012
Trisomy 9p syndrome 9p 2 0.008
Trisomy 12p syndrome 12p 2 0.008
12p13.33 microdeletion syndrome 12p13.33 2 0.008
17q12 deletion syndrome 17q12 2 0.008
Hypertrichosis terminalis, generalized, with or without gingival hyperplasia (HTC3) 17q24.2-q24.3 2 0.008
Diseases Cytoband Count %
22q11.2 delection syndrome (distal, D-E/F) 22q11.21-q11.22 2 0.008
2q13 duplication syndrome 2q13 2 0.008
2q21.1 delection syndrome 2q21.1 2 0.008
2q23.1 microduplication syndrome 2q23.1 2 0.008
5p13 duplication syndrome 5p13 2 0.008
Spinal muscular atrophy, type1 (SMA1) 5q13 2 0.008
Axenfeld-Rieger syndrome, type3 (RIEF3) 6p25.3 2 0.008
7p22.1 microduplication syndrome 7p22.1 2 0.008
Monosomy 7 7q 2 0.008
7q36.3 duplication syndrome 7q36.3 2 0.008
8q22.1 duplication syndrome 8q22.1 2 0.008
xq28 duplication syndrome xq28 2 0.008
Patau syndrome chr13 1 0.004
Monosomy 10p syndrome 10p 1 0.004
DiGeorge syndrome/velocardiofacial syndrome complex 2 (DGS2) 10p14-p13 1 0.004
10q22.3-q23.2 duplication syndrome 10q22.3-q23.2 1 0.004
10q26 deletion syndrome 10q26 1 0.004
Partial Trisomy 11q syndrome 11q 1 0.004
11q22.2-q22.3 microdeletion syndrome 11q22.2-q22.3 1 0.004
Partial Monosomy 13q syndrome 13q 1 0.004
Congenital microcoria 13q32 1 0.004
Alpha-thalassemia/mental retardation syndrome, chromosome 16-related
(ATR-16 syndrome)
16pter-p13.3 1 0.004
Smith-Magenis syndrome 17p11.2 1 0.004
17q11.2 duplication syndrome 17q11.2 1 0.004
18q deletion syndrome 18q 1 0.004
1q41-q42 deletion syndrome 1q41-q42 1 0.004
2q35 duplication syndrome 2q35 1 0.004
2q37 deletion syndrome 2q37 1 0.004
3q13.31 deletion syndrome 3q13.31 1 0.004
3q29 duplication syndrome 3q29 1 0.004
Wolf-Hirshhom syndrome (WHS) 4p16.3 1 0.004
4q deletion syndrome 4q 1 0.004
Trisomy 5p syndrome 5p 1 0.004
5q14.3 deletion (distal) syndrome 5q14.3-q15 1 0.004
5q35 duplication syndrome 5q35 1 0.004
Sotos syndrome 5q35.3 1 0.004
Chordoma 6q27 1 0.004
7q11.23 duplication syndrome 7q11.23 1 0.004
7q11.23 deletion (distal) syndrome 7q11.23 1 0.004
Split-hand/foot malformation 1 (SHFM1) 7q21.2-q21.3 1 0.004
Monosomy 8p syndrome 8p 1 0.004
Trisomy 8p syndrome 8p 1 0.004
8p23.1 duplication syndrome 8p23.1 1 0.004
Joubert syndrome 6 (JBTS6) 8122.1 1 0.004
9q31.1-q31.3 micro deletion syndrome 9q31.1-q31.3 1 0.004
Diseases Cytoband Count %
Xq27.3-q28 duplication syndrome Xq27.3-q28 1 0.004
2q12.2-q13_DEL 2q12.2-q13 1 0.004
12q24.31-q24.32_DEL 12q24.31-q24.32 1 0.004
15q11.2_DEL 15q11.2 1 0.004
19q13.33-q13.43_DUP 19q13.33-q13.43 1 0.004
22q13.2_DEL 22q13.2 1 0.004
Xq27.1-q28_DUP Xq27.1-q28 1 0.004
Xq28_DUP Xq28 1 0.004
Xp22.33-p21.1_DEL Xp22.33-p21.1 1 0.004
Tetrasomy X chrX 1 0.004