|
Case 1
|
8p23.2p23.3, deletion, 5.2 M
|
8p23.2p23.3, deletion, 6.0 M
|
Pathogenic
|
de novo
|
Therapeutic abortion
|
23+2 W
|
|
Case 2
|
12p12.1p12.2, deletion, 4.2 M
|
12p12.1p12., deletion, 4.13 M
|
Pathogenic
|
not determined
|
Therapeutic abortion
|
21+5W
|
|
Case 3
|
18q12.3, duplication, 2.2 M
|
18q12.3, duplication, 1.51 M
|
VOUS
|
Not determined
|
Delivery, normal
| |
|
Case 4
|
15q13.2q13.3,deletion, 2.1 M
|
15q13.2q13.3, deletion, 1.34 M
|
Pathogenic
|
de novo
|
Therapeutic abortion
|
23+4 W
|
|
Case 5
|
11p14.2p14.3, duplication, 3.85 M
|
11p14.2p14.3, duplication, 3.59 M
|
VOUS
|
Inherited from the father
|
Delivery, normal
| |
|
Case 6
|
11q22.1q25, duplication, 40.09 M
|
11q22.1q25, duplication, 35.57 M
|
Pathogenic
|
de novo
|
Head deformity (ultrasound), therapeutic abortion
|
22+1 W
|
|
Case 7
|
16p13.11, duplication, 2.5 M
|
16p13.11, duplication, 1.64 M
|
Likely pathogenic (nonpenetrance)
|
Not determined
|
Unknown
| |
|
Case 8
|
10q21.1, deletion, 2.1 M
|
10q21.1, deletion, 2.13 M
|
VOUS
|
Not determined
|
Delivery, normal
| |
|
Case 9
|
2q32.3q33.1, duplication, 5.29 M
|
2q32.3q33.1, duplication, 4.28 M
|
VOUS
|
Inherited from the mother
|
Delivery, normal
| |
|
Case 10
|
18q22.3q23, duplication, 5.45 M
|
18q22.3q23, duplication, 6.04 M
|
VOUS
|
Inherited from the mother
|
Head deformity (ultrasound), therapeutic abortion
|
26+6 W
|
|
Case 11
|
4p14p15.1, deletion, 3.6 M
|
4p14p15.1, deletion, 3.32 M
|
VOUS
|
Not determined
|
Delivery, normal
| |
|
Case 12
|
13q33.1q34, deletion, 9.4 M
|
13q33.1q34, deletion, 9.22 M
|
Pathogenic
|
de novo
|
Craniofacial malformation (ultrasound), therapeutic abortion
|
25+1 W
|
|
Case 13
|
1q21.1q21.2, duplication, 3.0 M
|
1q21.1q21.2, duplication, 1.71 M
|
Pathogenic (incomplete penetrance)
|
Inherited from the mother
|
Therapeutic abortion
|
24+6 W
|
|
Case 14
|
3q26.33q27.1, duplication, 3.35 M
|
3q26.33q27.1, duplication, 3.29 M
|
VOUS
|
Not determined
|
Delivery, normal
| |
|
Case 15
|
15q11.2q13.1, duplication, 6 M
|
15q11.2q13.1, duplication, 5.24 M
|
Pathogenic
|
Not determined
|
Therapeutic abortion
| |
|
Case 16
|
18q12.3q22.3, duplication, 28.6 M
|
18q12.3q22.3, duplication, 30.59 M
|
Pathogenic
|
Not determined
|
Head deformity and cheilopalatognathus (ultrasound), therapeutic abortion
|
23+5 W
|
|
Case 17
|
16p13.11p12.3, duplication, 3.6 M
|
16p13.11p12.3, duplication, 2.67 M
|
Likely pathogenic (nonpenetrance)
|
not determined
|
Delivery, normal
| |
|
Case 18
|
3p26.3, duplication, 2.5 M
|
3p26.3, duplication, 2.21 M
|
VOUS
|
Inherited from the mother
|
Delivery, normal
| |
|
Case 19
|
2q12.1q12.3, duplication, 2.5 M
|
2q12.1–12.3, duplication, 2.51 M
|
VOUS
|
Not determined
|
Delivery, normal
| |
|
Case 20
|
17p12, deletion, 2.5 M
|
17p12, deletion, 1.42 M
|
Pathogenic
|
Inherited from the mother
|
Delivery, normal
| |
|
Case 21
|
6p12.1p12.3, duplication, 4.6 M
|
6p12.1p12.3, duplication, 4.36 M
|
VOUS
|
Inherited from the mother
|
Delivery, normal
| |
|
Case 22
|
18q12.2, deletion, 2.5 M
|
18q12.2, deletion, 1.06 M
|
VOUS
|
Not determined
|
Therapeutic abortion
|
23+3 W
|
|
Case 23
|
2q13, deletion, 2 M
|
2q13, deletion, 2.12 M
|
Likely pathogenic (nonpenetrance)
|
Inherited from the mother
|
Delivery, normal
| |
|
Case 24
|
8 p21.3p22, deletion, 5.21
|
8p21.3p2, deletion, 3.81 M
|
VOUS
|
Not determined
|
Delivery, normal
| |
|
Case 25
|
3q26.32q28, duplication, 9.61 M
|
3q26.32q28, duplication, 9.61 M
|
Pathogenic
|
de novo
|
Facial and cardiac abnormalities (ultrasound), therapeutic abortion
|
26+1 W
|
