Abnormal genetic results
| Patient No. | Chromosomal Abnormality | Syndrome |
|---|---|---|
| 4 | 6q27 loss, 11q24.1q25 gain | None |
| 7 | 7q31.32 copy number loss | None |
| 9 | 10q25:1-q26.3 duplication, 11q23.3-q25 deletion, copy number neutral mosaic, allelic homozygosity 17q13.3-p11 | Jacobsen |
| 15 | 22q11.2 deletion | DiGeorge |
| 18 | Partial trisomy 13 | None |
| 19 | Partial trisomy 18 | None |
| 21 | CHD7 mutation | CHARGE |
| 22 | 9p24.3p22.3 loss, 17q25.3 gain, unbalanced translocation between chromosomes 9 and 7, trisomy distal 17q segment | None |
| 24 | Continuous duplication and terminal deletion of chromosome 6 | None |
| 30 | 13q12.12 gain, UBR1 mutation | Johanson-Blizzard |
| 39 | Trisomy 2p | None |