Table 4.
Molecular findings
| Exome sequencing | |
|---|---|
| Mode of inheritance | No. of cases |
| Autosomal dominant (n = 66) | |
| Heterozygous SNV/INDELs | |
| De novo | 16 |
| Inherited | 6 |
| Unknown | 41 |
| Mosaic heterozygous SNV | 2 |
| Heterozygous CNV | 1 |
| Autosomal Recessive (n = 121) | |
| Homozygous SNV/INDELs | 100 |
| Compound heterozygous SNV/INDELs | 15 |
| Homozygous CNV | 5 |
| X-linked recessive/X-linked dominant (n = 17) | |
| Hemizygous CNV | |
| Inherited | 1 |
| Unknown | 2 |
| Hemizygous SNV | 5 |
| Heterozygous SNV | 9 |
| Two diagnosis (n = 6) | |
| Autosomal recessive + autosomal recessive | 1 |
| Autosomal dominant + autosomal dominant | 2 |
| Autosomal recessive + autosomal dominant | 1 |
| Autosomal recessive + X-linked | 1 |
| Autosomal dominant + X-linked | 1 |
| Risk factor | 1 |
| Secondary diagnosis | 2 |
| Chromosomal microarrays | |
| Copy number variants (n = 49) | |
| Heterozygous deletion | 28 |
| Homozygous deletion | 1 |
| Heterozygous duplication | 5 |
| Homozygous duplication | 1 |
| Partial trisomy | 1 |
| Partial mosaic tetrasomy | 1 |
| Whole-chromosome trisomy | 8 |
| Whole-chromosome tetrasomy | 1 |
| Whole-chromosome monosomy | 2 |
| Mosaic whole-chromosome trisomy and monosomy | 1 |
| Suspected unbalanced translocation (n = 4) | |
| Inverted duplication deletion | 1 |
| Inverted duplication deletion | 1 |
| Heterozygous mosaic deletion and heterozygous deletion | 1 |
| Unbalanced translocation | 1 |
| Two diagnoses (n = 1) | |
| Heterozygous deletion + heterozygous deletion | 1 |
| Loss of heterozygosity (n = 2) | |
| Uni-parental disomya | 2 |
aUPD7 (case 212) and UPD15 (case 438)