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Table 2 Overview of most prominent characteristics seen in individuals with terminal 6q deletions and interstitial 6q26q27 deletions

From: The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Groupa characteristicsb

T-PSMB1 (n = 1)

T-DLL1 (n = 23)

T-AFDN (n = 16)

T-PDE10A (n = 10)

T-QKI (n = 7)

T-PRKN (n = 20)

T-MAP3K4 (n = 6)

T-R (n = 10)

Total terminal (n = 93)

I-6q27 (n = 5)

I-6q26 (n = 6)

Sex (female/male)

Male

14/9

9/7

9/1

4/3

10/10

6/0

9/1

61/32

2/3

2/4

Prolonged neonatal jaundice

n.a

0/3

0/5

1/3

1/4

6/15

1/4

0/4

9/38

0/0

0/5

Low birth weight (< p10)

 + 

0/5

3/9

0/5

1/6

5/15

1/4

2/3

13/48

0/1

1/4

Short stature (< p10)

 + 

1/7

1/9

2/7

0/5

6/15

1/3

3/3

15/50

0/1

0/2

Head circumference < p10/normal/ > p90

 < p10

5/4/2

2/5/1

4/2/2

5/1/1

13/3/0

1/1/0

3/0/1

34/16/7

1/0/0

0/2/0

Plagiocephaly

n.a

2/4

2/6

0/1

2/3

7/13

2/4

1/3

16/34

0/0

1/4

Hypertelorism

n.a

3/8

4/8

3/4

4/6

8/18

2/3

4/8

28/55

1/2

1/3

Vision problems

n.a

2/4

5/6

1/5

4/5

10/16

3/4

5/5

30/45

0/0

2/4

  Mild vision problems

n.a

1/2

3/5

0/1

3/4

6/10

2/3

1/5

16/30

0/0

1/2

Hypermetropia

n.a

0/4

2/6

0/4

4/5

5/17

3/4

0/4

14/44

0/0

2/4

Nystagmus

–

0/5

2/8

0/5

2/6

3/18

2/4

2/6

11/53

0/1

1/4

Strabismus

 + 

1/5

4/8

1/5

3/6

8/18

2/4

4/6

24/53

1/1

0/4

Abnormal eye morphology

n.a

0/3

1/5

0/4

0/4

7/16

0/4

4/6

12/42

0/0

0/3

Dysplastic outer ear

 + 

5/7

3/8

5/6

3/5

7/15

0/4

3/7

27/53

1/2

0/3

Cleft lip and/or palate

n.a

0/9

0/6

0/5

0/5

1/13

0/4

2/7

3/49

0/1

0/2

Dental problems

n.a

2/3

1/4

1/1

2/5

7/15

0/3

0/3

13/34

0/1

0/3

Feeding difficulties

n.a

3/3

3/6

2/2

2/5

13/16

3/4

2/3

28/39

0/0

2/3

Constipation

n.a

0/3

2/7

1/1

1/3

5/16

2/4

1/3

12/37

0/0

1/3

Anal abnormality

n.a

0/3

0/6

0/1

1/3

4/14

0/4

0/3

5/34

0/0

0/3

Respiratory problems

n.a

1/3

2/7

1/2

0/3

4/15

0/4

2/4

10/38

0/0

1/4

Recurrent infections

n.a

2/4

1/5

0/1

2/3

5/11

2/4

1/3

13/31

0/0

1/3

Congenital heart defectc

n.a

0/3

1/6

3/5

0/6

6/17

0/4

2/4

12/45

0/0

1/5

Kidney abnormality

n.a

0/3

2/7

0/3

1/3

2/16

1/4

1/4

7/40

1/1

1/4

Abnormal genitals in females

n.a

0/1

1/6

0/1

1/3

3/10

0/4

1/3

6/28

0/0

0/2

Sacral dimple

n.a

0/4

3/5

1/2

3/3

11/14

2/4

3/3

23/35

0/0

1/3

Spina bifida

n.a

0/3

0/6

0/2

0/3

3/12

0/4

2/5

5/35

0/0

1/4

Spinal cord abnormality

n.a

1/4

0/4

2/5

3/3

6/14

1/4

2/4

15/38

0/0

0/3

Abnormal vertebral morphology

 + 

1/5

1/7

0/2

1/3

1/11

2/5

1/4

8/38

0/0

0/3

Scoliosis

n.a

1/6

0/6

0/2

2/4

3/14

0/4

0/3

6/39

0/0

1/5

Hip dysplasia

n.a

0/1

0/1

1/2

0/1

5/10

0/1

0/1

6/17

0/0

0/1

Hypermobility of the joints

n.a

3/4

9/11

2/3

3/5

8/17

4/4

3/6

32/50

1/1

0/3

Pes planus

n.a

0/4

1/7

0/3

2/5

2/15

0/4

0/5

5/43

0/0

0/5

Positional foot deformity

n.a

0/4

1/7

2/3

1/5

1/15

0/4

3/5

8/43

0/0

1/5

Capillary haemangioma

n.a

0/5

1/5

0/3

0/4

1/13

1/4

0/3

3/37

0/1

0/4

Hypopigmentation of the skin

n.a

0/5

0/5

1/3

0/4

1/13

1/4

0/3

3/37

0/1

0/4

Brain abnormalities on MRI or CT

 + 

14/17

11/12

9/10

6/7

17/18

5/5

9/9

72/79

4/5

2/2

  Ventriculomegaly and/or hydrocephaly

 + 

10/14

10/11

7/9

4/6

9/17

4/5

6/9

51/72

4/5

1/2

  Abnormality of the cerebellum

–

0/14

4/11

1/9

2/6

5/17

3/5

3/9

18/72

2/5

0/2

  Corpus callosum abnormality

 + 

4/14

1/11

5/9

3/6

8/17

2/5

7/9

31/72

3/5

0/2

  Cortical dysplasia

–

4/14

1/11

2/9

2/6

4/17

1/5

1/9

15/72

4/5

0/2

Seizures and/or epilepsy

 + 

5/12

3/10

4/6

6/7

15/19

3/4

7/7

44/66

3/5

1/3

  Focal-onset

 + 

1/5

2/3

0/4

4/6

5/15

2/3

5/7

20/44

3/3

0/1

  Generalised-onset

–

3/5

1/3

0/4

5/6

4/15

2/3

1/7

16/44

0/3

0/1

Hypotonia

 + 

7/10

7/9

6/7

6/6

15/16

3/4

5/7

50/60

1/1

2/5

Hypertonia

n.a

0/3

1/5

0/1

0/1

2/11

2/4

2/4

7/29

0/0

0/3

Ataxia

n.a

2/4

1/5

1/1

1/3

2/10

2/3

2/3

11/29

1/1

0/3

Torticollis

n.a

2/3

0/5

0/1

1/3

3/12

1/4

1/3

8/31

0/0

0/3

Balance problems

n.a

3/4

2/6

2/2

2/3

11/13

3/4

2/3

25/35

0/0

1/3

Developmental delay (Table 3)

 + 

14/16

9/11

5/6

6/6

15/15

4/4

6/6

60/65

4/4

2/5

Sleeping problems

n.a

1/3

4/7

0/1

3/4

7/14

2/4

1/3

18/36

0/0

2/4

  Insomnia

n.a

1/1

4/4

0/0

1/3

4/7

2/2

0/1

12/18

0/0

2/2

Social behaviour

n.a

2/6

4/6

1/3

3/5

10/15

2/4

3/3

25/42

0/0

3/3

Helpful behaviour

n.a

1/6

2/6

1/3

2/5

5/15

1/4

0/3

12/42

0/0

1/3

Easily upset

n.a

3/6

3/6

1/3

2/5

4/15

2/4

2/3

17/42

0/0

1/3

Hyperactivity

n.a

3/6

1/6

1/3

1/5

6/15

1/4

2/3

15/42

0/0

2/3

  1. Clinical characteristics were selected based on prevalence and clinical significance
  2. CT computed tomography, MRI magnetic resonance imaging, n.a. not available
  3. aFor explanation see Fig. 1
  4. bFor more detailed information see Additional file 3: Table S3
  5. cThese included mainly septal defects (Additional file 3: see Table S3)