Table 2 Copy number variation analysis of candidate genes.
From: Clinical application of CNV-seq for diagnosing abnormal brain development in children
Case | Type of sample | age | CNVs | Location | Type of CNVs | Fragment length | Syndrome | Pathogenicity | Candidate gene |
|---|---|---|---|---|---|---|---|---|---|
1 | Peripheral blood | 2Y and 2 M | 15q11.2-q13.2 | chr15:22,782,170–28,134,728 | duplication | 7.64 Mb | 15q11-q13 duplication syndrome | P | UBE3A, AUTS4 |
2 | Peripheral blood | 9 M | 2q33.1-q33.3 | chr2:197,279,147–204,198,229 | deletion | 9.56 Mb | 2q32-q33 deletion syndrome | P | SATB2, GLSS |
3 | Peripheral blood | 2Y | 17p11.2 | chr17:16,906,714–20,309,889 | duplication | 3.88 Mb | Smith-Magenis syndrome | P | SMCR |
4 | Amniotic fluid | 29 W | Xp22.33-p11.1 | chrX:1–58,000,000 | deletion | 55.86 Mb | Chondrodysplasia Punctata | P | ARSL, CDPX1 |
