Table 1 Summary of patients examined in this study

From: Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype

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

  1. Abbreviation: IVF-ET, in vivo fertilization-embryo transfer using parental gametes.
  2. The microdeletions in patients 18–22 are different in size.