Table 1. Summary of patients examined in this study.
Patient | Genetic cause | UPD(14)pat subtype | Maternal age at childbirth (years) | Paternal age at childbirth (years) | Remark | Reference |
---|---|---|---|---|---|---|
1 | UPD(14)pat | TR/GC [M1] | 31 | 35 | 5 | |
2 | UPD(14)pat | TR/GC [M1] | 28 | 29 | 5 | |
3 | UPD(14)pat | TR/GC [M1] | 29 | 38 | This report | |
4 | UPD(14)pat | TR/GC [M1] | 36 | 41 | 5 | |
5 | UPD(14)pat | TR/GC [M2] | 30 | 30 | This report | |
6 | UPD(14)pat | MR/PE | 42 | Unknown | 4,5 | |
7 | UPD(14)pat | MR/PE | 31 | 28 | 5 | |
8 | UPD(14)pat | MR/PE | 32 | 33 | 5 | |
9 | UPD(14)pat | MR/PE | 26 | 35 | 5 | |
10 | UPD(14)pat | MR/PE | 38 | 38 | This report | |
11 | UPD(14)pat | MR/PE | 26 | 32 | This report | |
12 | UPD(14)pat | MR/PE | 41 | 36 | This report | |
13 | UPD(14)pat | MR/PE | 30 | 28 | This report | |
14 | UPD(14)pat | MR/PE | 39 | 34 | This report | |
15 | UPD(14)pat | MR/PE | 42 | 37 | Born after IVF-ET | 5 |
16 | UPD(14)pat | MR/PE | 36 | 36 | 4,5 | |
17 | UPD(14)pat-seg. | PE | 27 | 24 | Segmental isodisomy | 4,5 |
18 | Microdeletion | 31 | 34 | 2 | ||
19 | Microdeletion | 33 | 36 | 2 | ||
20 | Microdeletion | 28 | 27 | 2 | ||
21 | Microdeletion | 27 | 37 | IG-DMR alone | 3 | |
22 | Microdeletion | 25 | 25 | MEG3-DMR alone | 3 | |
23 | Epimutation | 35 | 36 | 2 | ||
24 | Epimutation | 28 | 26 | 2 | ||
25 | Epimutation | 27 | 30 | 2 | ||
26 | Epimutation | 33 | 33 | This report |
Abbreviation: IVF-ET, in vivo fertilization-embryo transfer using parental gametes.
The microdeletions in patients 18–22 are different in size.