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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.
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| 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 |
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