Table 2 Most prominent characteristics seen in individuals with terminal and subterminal 6p deletions

Phenotypic characteristic

Neonatal asphyxia

 + 

0/6

0/2

2/3

1/2

4/14

0/3

4/17

Neonatal feeding problems

 + 

2/6

1/2

3/3

2/2

9/14

3/3

12/17

Stature: Short/normal/long

Short

3/7/0

0/4/0

0/10/1

1/1/0

5/22/1

3/5/0

8/27/1

Micro-/Normo-/Macrocephaly

Microcephaly

1/6/2

0/4/0

0/9/2

1/1/0

3/20/4

0/5/0

3/25/4

Large fontanels

–

1/5

0/1

1/4

1/2

3/13

2/2

5/15

Eyes and vision

Hypertelorism

–

9/11

4/5

12/12

7/7

32/36

8/8

40/44

Abnormalities of vision

 + 

8/9

4/5

9/9

2/3

24/27

7/7

31/34

 Refraction problems

–

2/4

3/3

6/7

1/2

12/17

4/5

16/22

Eye movement abnormalities

–

6/10

1/3

7/9

1/4

15/27

3/5

18/32

Glaucoma

–

4/13

1/3

1/11

1/7

7/35

12/19

19/54

Coloboma

–

0/13

1/3

1/11

1/7

3/35

2/19

5/54

Anterior segment dysgenesis

–

8/12

2/3

10/10

4/6

24/32

14/18

38/50

 Axenfeld / Rieger anomaly

n.a

8/8

2/2

9/10

3/4

22/24

14/14

36/38

 Corneal opacity

n.a

2/8

0/2

2/10

2/4

6/24

0/14

6/38

Ears, hearing and balance

Dysplastic and/or low-set ears

–

3/7

0/3

4/12

6/7

13/30

2/5

15/35

Abn. middle and/or inner ear

–

2/4

2/3

3/4

2/2

9/14

3/5

12/19

 Abnormal cochlea

n.a

1/2

1/2

0/3

1/2

3/9

2/3

5/12

 Abn. tympanic membrane

n.a

1/2

0/2

1/3

0/2

2/9

2/3

4/12

Hearing impairment

–

9/12

2/3

7/11

4/4

22/31

10/13

32/44

Balance problems

 + 

3/4

1/3

3/3

0/2

8/13

3/6

11/19

Oral region

Cleft lip and/or palate

–

0/7

0/3

3/10

2/5

5/26

1/2

6/28

Dental problems

–

4/9

2/3

5/8

0/0

11/21

4/9

15/30

Internal organs and immune system

Feeding difficulties

–

1/4

2/3

3/3

2/2

8/13

2/3

10/16

Lower intestinal problems

–

1/3

0/2

2/3

1/2

4/11

1/3

5/14

Congenital heart defect

 + 

3/11

2/3

6/11

4/5

16/31

6/11

22/42

 Septal defect/PFO

 + 

2/3

1/2

5/6

4/4

13/16

4/6

17/22

 Patent ductus arteriosus

–

1/3

0/2

1/6

1/4

3/16

0/6

3/22

 Abnormal heart valves

–

1/3

2/2

1/6

1/4

5/16

4/6

9/22

Kidney abnormalities

–

1/3

0/2

1/3

3/4

5/13

1/5

6/18

Micropenis

–

1/1

0/2

1/5

1/2

3/11

1/3

4/14

Recurrent infections

 + 

3/3

2/3

2/4

0/2

8/13

4/4

12/17

Skeletal abnormalities

Scoliosis

n.a

2/4

0/3

1/4

2/4

5/16

1/3

6/19

Hip dysplasia

u

0/3

0/2

2/5

0/1

2/11

3/4

5/15

Joint hypermobility

–

2/3

0/2

3/4

1/3

6/13

4/4

10/17

Pes planus/positional foot deformity

 + 

2/10

1/4

4/8

3/6

11/29

2/6

13/35

Bone deformities (epiphyseal)

u

5/5

0/1

5/5

1/1

11/12

2/4

13/16

Nervous system

Brain abnormalities on imaging

 + 

7/8

4/4

9/11

7/7

28/31

8/9

36/40

 Cerebellar abnormality

–

2/7

2/4

4/9

7/7

15/28

1/8

16/36

  Dandy–Walker complex

n.a

0/1

2/2

2/4

5/5

9/12

1/1

10/13

 Abnormal corpus callosum

–

0/7

0/4

3/9

4/7

7/28

2/8

9/36

 Ventriculomegaly/hydrocephalus

–

3/8

3/4

5/9

5/7

16/29

3/8

19/37

 Abnormal white matter

u

5/6

0/4

5/9

0/5

10/24

6/7

16/31

Seizures

–

1/4

1/2

2/4

1/3

5/14

1/2

6/16

Hypotonia

 + 

3/3

4/4

7/9

2/2

17/19

3/5

20/24

Sensory impairment

 + 

0/1

1/2

2/4

1/2

5/10

0/2

5/12

Development and behaviour

Developmental delay

–

11/14

2/3

10/10

1/1

24/29

10/12

34/41

Sleeping problems

 + 

0/2

0/2

2/3

0/2

3/10

2/2

5/12

Social behaviour

 + 

2/4

2/3

2/6

0/2

7/16

2/4

9/20

Quiet behaviour

–

0/4

1/3

3/6

1/2

5/16

1/4

6/20

Autistic behaviour/spectrum

–

1/2

2/3

1/4

0/2

4/12

2/4

6/16