Table 4 CNVs with known association with CHDs for which there is currently insufficient evidence to support a phenotypic expansion involving APVR.
Chromosomal Region, size, (hg38 breakpoints) | Disorder associated with deleted or duplicated region [MIM#] | Subject ID | Other cases of APVR reported for this region | Cases of other CHDs reported for this region | References |
---|---|---|---|---|---|
Deletion 2q31.3q32.1, 555.4 kb, (chr2:181,915,576- 182,470,985) | N/A | S13 | Yes | Yes | [21] |
Deletion 3q29, 1.68 Mb, (chr3:195,950,438- 197,629,463) | Chromosome 3q29 microdeletion syndrome [MIM# 609425] | S14 | No | Yes | [48] |
Duplication 16p13.11, 1.86 Mb (chr16:14,816,348- 16,678,513) | N/A | S42 | No | Yes | |
Deletion 17q25.3, 1.08 Mb, (chr17:82,004,063- 83,087,346) | N/A | S50 | No | Yes | [51] |