Table 1.
Details of chromosomal abnormalities in FISH negative∗ suspected 22q11.2 microdeletion cases.
| DBN | Locus/loci | CNV | Start | End | Size (mb) | Genes | Disease |
|---|---|---|---|---|---|---|---|
| 93 | 18p11.32-p11.21 | 3 | 2842 | 15365878 | 15.3 | 89 | Trisomy 18 |
| 18q11.1-q23 | 3 | 16786754 | 76115554 | 59.3 | 241 | ||
| 98 | All chromosomes | 3 | Triploidy (mosaicism confirmed by FISH) | ||||
| 103 | 18q21.31-q23 | 1 | 54144903 | 78014582 | 23.8 | Partial 18q monosomy | |
| 115 | 11q23.2-q25 | 3 | 113077541 | 134944006 | 21.8 | Partial 11q trisomy (Jacobsen, Bartter 2, 11q) | |
| 116 | All chromosomes | 3 | Triploidy (mosaicism confirmed by FISH) | ||||
| 205 | 21q11.2 q21.1 | 3 | 13609442 | 46923252 | 33.3 | 256 | Trisomy 21 |
| q21.2 q21.3 | |||||||
| q22.11 q22.12 | |||||||
| q22.13 q22.2 | |||||||
| q22.3 |
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).