Table 1 Overview on the number of carriers of upd(6)mat, upd(16)mat, TS14 and upd(20)mat patients from the literature and clinical data on our patients with 14q32 epimutation

Reference

available on request

[7]

available on request

[9]

Number of patients

13

20

44

51

72

15

Cases with chromosomal disturbances

4/9

40/44

3/12

Cases with normal phenotype

1

<10^c

 IUGR (<P10)

53.8 % (7/13)

70 %

82 %

87 %

74 % (53/72)

100 %

yes

 PNGR (<P10)

3^bcases

65 %

57 %

79 %

1 case

100 %

yes

 Asymmetry

1 case

30 %

68 %

4 %

no

 Relative macrocephaly

1 case

90 %

70 %

56 %

1 case

no

 Relative macrocephaly

1 case

1 case

no

 Hypotonia

1 case

93 %

1 case

yes

 Abdominal wall defects

1 case

rare

1 case

no

 Glycemic disorder

hypoglycemia:

24 %

hypoglycemia:

19 %; diabetes type 2 reported in later life

hypoglycemia, diabetes type 2 reported in later life

hypoglycemia:

1 case

yes

 Precocious puberty

frequent

frequent

86 %

too young

 Mental retardation

global delay:

65 %

global delay:

20 %

39 %

1 case

 Speech delay

50 %

39 %

yes

 Motor delay

2 cases

50 % (7/14)

76 % (26/34)

yes

 Behaviour

20 %

9 %

 Feeding difficulties

1 case

90 %

84 %

43 %

7 cases

yes

 Seizures

1 case

1 case

1 case

 Excessive Sweating

75 %

64 %

 Scoliosis

5 %

9 %

23 %

1 case

 Adipostas

reported in later life [26]

yes

 Dysmorphic/typical facial gestalt

1 case

6 cases

mild

yes

 Dlinodactyly/finger abnormalities

45 %

75 %

5 cases

yes

 Ear abnormalities

low set posterior

low set posterior

 Otitis media

20 %

14 %

17.6 % (9/51)