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Table 4 Molecular findings

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)

 

 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

  1. aUPD7 (case 212) and UPD15 (case 438)