Table 3.
Details of other microdeletions and/or duplications in FISH negative∗ suspected 22q11.2 microdeletion cases.
| DBN | Locus/loci | CNV | Start | End | Size | Genes | Gene details/disease |
|---|---|---|---|---|---|---|---|
| 88 | 15q11.2 | 3 | 22754322 | 23222284 | 0.46 | 6 | Prader-Willi/Angelman syndrome and chromosome 15q11-q13 duplication syndrome (TUBGCP5; CYFIP1; CYFIP1; NIPA2; NIPA1; WHAMML1) |
|
| |||||||
| 102 | 16p11.2 | 1 | 29661217 | 30347731 | 0.68 | 46 | C16orf54; MAZ; PRRT2; C16orf53; MVP; MVP; CDIPT; LOC440356; LOC440356; SEZ6L2; ASPHD1; KCTD13; TMEM219; TAOK2; HIRIP3; INO80E; DOC2A; FLJ25404; FAM57B; ALDOA; ALDOA; ALDOA; ALDOA; PPP4C; TBX6; YPEL3; YPEL3; GDPD3; MAPK3; LOC100271831; CORO1A; LOC606724; BOLA2; GIYD1; SULT1A4; SULT1A4; LOC388242; LOC613037; IMAA; CD2BP2; TBC1D10B; MYLPF; SEPT1; ZNF48; ZNF771; DCTPP1 |
|
| |||||||
| 197 | 1q21.1 | 3 | 144943150 | 146916824 | 1.9 | 24 | PDZK1; GPR89A; GPR89C; PDZK1; LOC200030; NBPF11; LOC728989; PRKAB2; PDIA3P; FMO5; FMO5; CHD1L; BCL9; ACP6; GJA5; GJA8; GPR89B; GPR89C; PDZK1; LOC200030; NBPF11; FLJ39739; PPIAL4B; PPIAL4A; NBPF14; PPIAL4F; NBPF15; NBPF15; NBPF16; PPIAL4E; NBPF16; PPIAL4F; LOC645166; LOC645166 |
|
| |||||||
| 229 | 15q11.1 | 3 | 20192086 | 22508324 | 2.3 | 13 | GOLGA6L6; GOLGA8C; BCL8; POTEB; NF1P1; LOC646214; CXADR; POTEB; NF1P1; LOC727924; OR4M2; OR4N4; OR4N3P |
| q11.2 | |||||||
FISH negative∗ means normal FISH result or FISH that failed or FISH not carried out due to cell lysis (frozen sample) or clotted sample.
DBN: database number (CNV 1 = deletion; CNV 3 = duplication).