Table 2 Mosaic segmental UPD

15

1pter → p22.1

50

3 years

Developmental delay, seizures, hearing loss, decreased motor function

16

1pter → p36.32

34

1.9 mos

Seizures in infant, suspect epilepsy

17

1q12 → qter

50

1.5 years

Macrocephaly, delays in development and speech, short stature

18

1q42.13 → qter

15

CVS

AMA, family history of chromosome abnormality

19

3pter → p24.3

30

AF

AV canal defect, 2 vessel cord, co-twin with anencephaly, oligohdramnios

20

5pter → p13.2

50

CVS

Prenatal anxiety

21

9q13 → qter

40

4 years

Autism

22

9q13 → qter

20

POC

Loss at 22 weeks

23

11q13.4 → qter

25

AF

Clinodactyly, bright bowel

24

12q13.13 → qter

25 (blood); 15 (buccal); 0 (villi)

NB

Dysmorphic features, Mowat-Wilson syndrome (a pathogenic mutation in ZEB2 was correlated with the phenotype)

25

12q13.11 → 12q13.13

70

85

1.5 years

Peg teeth, dry skin, developmental delay, speech and motor delay

12q13.13 → qter

26

13q12.3 → qter

20

5.3 years

Atrial septal defect

27

13q12.11 → qter

35

3.9 years

Essential (primary) hypertension, obesity, abnormal weight gain

28

14q12 → qter

25

8.9 years

Developmental delay

29

14q22.1 → qter

27

3.4 years

Autism, multiple congenital anomalies

30

15q13.3 → q15.2

15

12 years

Short stature, developmental delay; symptoms consistent with 15q25.2 microdeletion syndrome

15q15.2 → q22.31

46

15q22.31 → qter

75^a

31

15q22.31 → qter

30

CVS

NT 3.9 mm

32

16q11.2 → qter

35

NB

Microcephaly, fetal growth restriction

33

18q11.1 → qter

25

POC

Positive MSS, increased risk of 4p deletion, features consistent with Wolf–Hirschhorn syndrome

34

19q13.2 → q13.2

25

35 years

Progressive progeria-like symptoms, short stature, psychoses

19q13.2 → qter

37

35

21q21.1 → qter

40^b

29 years

Developmental disorder of scholastic skills

36

22q11.23 → qter

50

POC

Abnormal cfDNA screen with fetal demise