From: The genomic landscape of rare disorders in the Middle East
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) | Â |
 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) | Â |
 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 |