Table 9.
Clinical details of other pathogenic CNVs detected by SNP microarray.
| Microarray details | Genes | Diagnosis | Clinical details | Other CNVs |
|---|---|---|---|---|
| 15q11.2 0.46 mb duplication |
6 | 15q11-q13 duplication | Three-month-old male with TOF, feeding difficulty, hypocalcemia, dysmorphism, poly/syndactyle, hypoplastic mandible, IUGR, and so forth | 10q11.22 (3) |
|
| ||||
| 16p11.2 0.68 mb deletion |
46 | 16p11.2 deletion | 4-month-male with CHD (DORV, PS/pulmonary stenosis), blepharophimosis, ptosis, and so forth | 15q12 (3) 14q11.2 (3) |
|
| ||||
| 1q21.1 1.9 mb duplication |
24 | 1q21.1 duplication | Male of 2+ years with TOF, broad nose, thin upper lip, absent philtrum, small and low set ears, antimongoloid slant, telecanthus, long slender fingers, widow peak, and so forth | 11p11.12 (3) |
|
| ||||
| 15q11.1 q11.2 2.3 mb duplication |
13 | 15q11.1 q11.2 duplication | 1-year-old male with CHD (VSD), dysmorphism, GDD, and so forth | 14q11.2 (3) |