| |
All cases (n = 146 samples)
|
Sporadic (n = 106 samples)
|
Significant history (n = 40 samples)
|
|---|
|
Autosomal dominant (AD)
|
|
De novo/germline
|
19
|
19
|
0
|
|
De novo/mosaic in fetus
|
1
|
1
|
0
|
|
Inherited/mosaic in mother
|
2
|
2
|
0
|
|
Parents unavailable
|
1
|
1
|
0
|
|
Total AD
|
23
|
23
|
0
|
|
Autosomal recessive (AR)
|
|
Compound heterozygous
|
13
|
6
|
7
|
|
Homozygous
|
6
|
3
|
3
|
|
TOTAL AR
|
19
|
9
|
10
|
|
X-linked (XL)
|
|
De novo
|
2
|
2
|
0
|
|
Inherited/mother
|
2
|
1
|
1
|
|
Total XL
|
4
|
3
|
1
|
|
Total molecular diagnoses
|
46
|
35
|
11
|
- Cases classified as “sporadic” are those with no reported family members or previous pregnancies with a similar phenotype. Cases classified as “significant history” are those with a previous pregnancy or a close biological relative or with similar phenotypic findings
