| Patients |
aCGH result |
Genes included in deletion/duplication * |
Mutation in CORO1A |
| Case 1 |
Del Xq25 |
SH2D1A, TENM1, LOC100129520, DCAF12L2, DCAF12L1, CXorf64, ACTRT1 |
No |
| Case 2 |
Dup 16p13.11 |
MPV17L, C16orf45, KIAA0430, NDE1, MIR484, MYH11, FOPNL, ABCC1, ABCC6 |
c.616C>T, p.R206C |
| Del 16p11.2 |
SPN, QPRT, C16orf54, ZG16, KIF22, MAZ, PRRT2, PAGR1, MVP, CDIPT, CDIPT-AS1, SEZ6L2, ASPHD1, KCTD13, THEM219, TAOK2, HIRIP3, INO80E, DOC2A, C16orf92, FAM57B, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A |
| Case 3 |
Del 6p22.1 |
PRSS16, POM121L2, VN1R10P, ZNF204P, ZNF391 |
No |
| Dup 14q32.33 |
JAG2, NUDT14, BRF1, BTBD6, PACS2, TEX22, MTA1, CRIP2, CRIP1, C14orf80, THEM121 |
| Case 4 |
Del 7q31.1 |
DOCK4 |
No |
|
