Table 3.
Results of Heterozygosity Screening of the 1.3-Mb Interval
|
Finding in Fathers |
Finding in Mothers |
|||||||
| Informative (18/20 [90%]) |
Informative (13/20 [65%]) |
|||||||
| Subject: | HomozygousInversion | HeterozygousInversion | Normal | Not Informative (2/20 [10%]) | HomozygousInversion | HeterozygousInversion | Normal | Not Informative (7/20 [35%]) |
| Patients with SoS and: | ||||||||
| Paternal deletion (n=16) | 0 | 14/14a (100%) | 0 | … | 0 | 8/9b (88.9%) | 1/9 (11%) | … |
| Maternal deletion (n=2) | 0 | 2/2 (100%) | 0 | … | 0 | 2/2 (100%) | 0 | … |
| Deletion not determined (n=2) | 0 |
2/2 (100%) |
0 |
… |
0 |
1/2 (50%) |
1/2 (50%) |
… |
|
Finding in Males |
Finding in Females |
|||||||
| Informative (6/10 [60%]) |
Informative (4/10 [40%]) |
|||||||
| HomozygousInversion |
HeterozygousInversion |
Normal |
Not Informative (4/10 [40%]) |
HomozygousInversion |
HeterozygousInversion |
Normal |
Not Informative (6/10 [60%]) |
|
| Controls (n=20) | 0 | 4/6 (66.7%) | 2/6 (33.3%) | … | 0 | 3/4 (75%) | 1/4 (25%) | … |
a
Includes three fathers of patients with SoS and a smaller deletion.
b
Includes two mothers of patients with SoS and a smaller deletion.