Table 1 Demographics and major clinical features

1

PWS

Female

6 h

^a del(15)(q?11q?13)pat

Prenatal hypotonia, low prenatal weight and below-average height

2

PWS

Male

10 h

del(15)(q11.2q13.1)pat

Hypotonia in neonate, hypoxic ischemic encephalopathy

3

PWS

Male

11 h

^a del(15)(q?11q?13)pat

Poor suck, less spontaneous arousal, and weak cry

4

PWS

Male

12 h

^a del(15)(q?11q?13)pat

Poor suck, weak cry, and typical facial features

5

PWS

Male

12 h

^a del(15)(q?11q?13)pat

Prenatal hypotonia, atypical fetal position during delivery

6

PWS

Female

13 h

^a del(15)(q?11q?13)pat

Poor suck, less spontaneous arousal, and weak cry

7

PWS

Female

14 h

isoUPD(15)mat

Hypotonia in neonate, hypoxic ischemic encephalopathy, and typical facial features

8

PWS

Female

15 h

^a del(15)(q?11q?13)pat

Prenatal hypotonia, low prenatal weight and below-average height

9

PWS

Male

16 h

del(15)(q11.2q13.1)pat

Prenatal hypotonia, atypical fetal position during delivery

10

PWS

Male

1 day

^a del(15)(q?11q?13)pat

Hypotonia in neonate, hypoxic ischemic encephalopathy, and typical facial features

11

PWS

Male

1 day

^a del(15)(q?11q?13)pat

Poor suck, weak cry, and typical facial features

12

PWS

Male

1 day

isoUPD(15)mat

Prenatal hypotonia, low prenatal weight and below-average height

13

PWS

Male

2 days

del(15)(q11.2q13.1)pat

Poor suck, weak cry, and typical facial features

14

PWS

Male

3 days

del(15)(q11.2q13.1)pat

Poor suck, less spontaneous arousal, and weak cry

15

PWS

Male

4 days

del(15)(q11.2q13.1)pat

Lethargy and poor suck

16

PWS

Male

5 days

^a del(15)(q?11q?13)pat

Hypotonia in neonate and hypoxic ischemic encephalopathy

17

PWS

Male

6 days

^a del(15)(q?11q?13)pat

Poor suck, weak cry, and typical facial features

18

PWS

Male

7 days

^a del(15)(q?11q?13)pat

Poor suck, less spontaneous arousal, weak cry, and typical facial features

19

PWS

Female

7 days

segmental iso/heteroUPD(15)mat

Lethargy and poor suck

20

PWS

Female

10 days

^a del(15)(q?11q?13)pat

Poor suck, less spontaneous arousal, and weak cry

21

PWS

Male

10 days

^a del(15)(q?11q?13)pat

Lethargy and poor suck

22

PWS

Female

11 days

^a del(15)(q?11q?13)pat

Lethargy, poor suck, and typical facial features

23

PWS

Female

16 days

isoUPD(15)mat

Thyroid axis dysfunction, poor suck, and weak cry

24

PWS

Female

17 days

^a del(15)(q?11q?13)pat

Hypotonia in neonate, hypoxic ischemic encephalopathy

25

PWS

Male

20 days

del(15)(q11.2q13.1)pat

Lethargy and poor suck

26

PWS

Male

24 days

isoUPD(15)mat

Poor suck, less spontaneous arousal, and weak cry

27

PWS

Male

24 days

^a del(15)(q?11q?13)pat

Lethargy and poor suck

28

PWS

Male

25 days

del(15)(q11.2q13.1)pat

Lethargy, poor suck, and typical facial features

29

PWS

Male

1 month

^a del(15)(q?11q?13)pat

Hypotonia in neonate and respiratory impairment

30

PWS

Male

1 month

^a del(15)(q?11q?13)pat

Lethargy, poor suck, and typical facial features

31

PWS

Female

1 month

isoUPD(15)mat

Thyroid axis dysfunction and typical facial features

32

PWS

Female

2 months

^a del(15)(q?11q?13)pat

Delayed motor development and typical facial features

33

PWS

Male

3 months

^a del(15)(q?11q?13)pat

Delayed motor development and lethargy

34

PWS

Female

1 year

^a del(15)(q?11q?13)pat

Delayed motor development and lethargy

35

PWS

Female

4 years

^a del(15)(q?11q?13)pat

Obesity, severe intellectual disability, typical facial features

36

PWS

Male

6 years

^a del(15)(q?11q?13)pat

Obesity, mental and developmental retardation, short stature, hypogonadism, typical facial features

37

AS

Female

12 h

del(15)(q11.2q13.1)mat

Hypotonia, sucking and swallowing diffculties

38

AS

Male

15 days

del(15)(q11.2q13.1)mat

Hypotonia, sucking and swallowing diffculties

39

AS

Male

15 days

isoUPD(15)pat

Hypotonia, sucking and swallowing diffculties

40

AS

Male

27 days

del(15)(q11.2q13.1)mat

Seizures, delayed psychomotor development

41

AS

Female

1 year

^a del(15)(q?11q?13)mat

Seizures, happy disposition, speech defect, intellectual disability

42

AS

Female

1 year

del(15)(q11.2q13.1)mat

Seizures, happy disposition, speech defect, intellectual disability

43

AS

Male

1 year

^a del(15)(q?11q?13)mat

Seizures, happy disposition, speech defect, severe intellectual disability

44

AS

Male

2 years

del(15)(q11.2q13.1)mat

Seizures, happy disposition, speech defect, intellectual disability

45

AS

Male

2 years

^a del(15)(q?11q?13)mat

Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern

46

AS

Male

2 years

del(15)(q11.2q13.1)mat

Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern

47

AS

Male

2 years

UBE3A mutation

Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern

48

AS

Male

2.9 years

del(15)(q11.2q13.1)mat

Seizures, happy disposition, speech defect, intellectual disability

49

AS

Male

2.4 years

^a del(15)(q?11q?13)mat

Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern

50

AS

Female

4 years

del(15)(q11.2q13.1)mat

Seizures, happy disposition, speech defect, intellectual disability, characteristic EEG pattern