Subtelomeric FISH image of chromosome 8 and 22 (A-B: father; C-D: mother; E-F: patient, duplication 8p and deletion 22q signals).
The 8p23.3-23.2 gain and 22q13.33 deletion in the patient.
Table 1
Copy number variants detected in the patient.
| Chromosome | Cytoband | Start | Stop | Array Aberration | Aberration Size (bp) | Genes |
|---|---|---|---|---|---|---|
| 8 | p23.3-p-23.2 | 191,531 | 5,248,586 | duplication | 5,057,056 | 12 genesa |
| 22 | q13.31-q13.33 | 46,863,086 | 51,178,264 | deletion | 4,315,178 | 45 genesb |
a ZNF596, FBXO25, C8orf42, ERICH1, LOC286083, DLGAP2, CLN8, MIR596, ARHGEF10, KBTBD11, MYOM2, CSMD1.
b CELSR1, GRAMD4, CERK, TBC1D22A, FLJ46257, MIR3201, FAM19A5, C22orf34, BRD1, LOC90834, ZBED4, ALG12, CRELD2, PIM3, IL17REL, MLC1, MOV10L1, PANX2, TRABD, SELO, TUBGCP6, HDAC10, MAPK12, MAPK11, PLXNB2, FAM116B, PPP6R2, SBF1, ADM2, MIOX, LMF2, NCAPH2, SCO2, TYMP, ODF3B, KLHDC7B, C22orf41, CPT1B, CHKB-CPT1B, CHKB, LOC100144603, MAPK8IP2, ARSA, SHANK3, ACR.