Causative CNVs | Related Syndrome |
---|---|
arr[hg19] 1p36.33p36.32 (849,466-4,273,842)×1 | 1p36 microdeletion syndrome |
arr[hg19] 2q22.2q22.3 (143,208,691-147,030,229)× 1 | Mowat-Wilson syndrome |
arr[hg19] 22q13.33 (49,542,105-51,197,766)×1 | 22q13.3 microdeletion syndrome |
arr[hg19] 17p13.3p13.2 (525–5,387,515)×1; 22q13.33 (50,522,375-51,197,766)×3 | Miller-Dieker syndrome |