Table 1 Array CGH detected CNVs
Chromosomal band | CNV | Start | End | Genes | |
|---|---|---|---|---|---|
1p12 | del | 120338195 | 120404356 | NOTCH2 (intragenic, exon 2–4) | homolog of Drosophila Notch2, MIM 600275 |
1q42.3 | del | 234409418 | 234422919 | GPR137B (intragenic, exon 5) | G protein-coupled receptor 137B, MIM 604658 |
3q26.32q26.33 | dup | 180445165 | 180668097 | KCNMB3 (5' partial), ZNF639, MFN1, GNB4 | potassium large conductance calcium-activated channel, subfamily M beta member 3, MIM 605222; zinc finger protein 639; Mitofusin 1, MIM 608506; Guanine nucleotide-binding protein beta-4, MIM 610863 |
14q32.11 | dup | 89942827 | 90019073 | CALM1 (3' partial) | Calmodulin 1, MIM 114180 |
20q13.33 | del | 59412001 | 59460188 | CDH4 (intronic) | cadherin 4 (retinal cadherin), MIM 603006 |
20q13.33 | dup | 59597204 | 59629701 | CDH4 (intronic) |