Table 2 Clinical review of the literature

Group / family

Monozygotics twins

Unrelated

Indiv.

Indiv.

Unrelated (2); Siblings (2)

Indiv.

Indiv.

Indiv.

Indiv.

Unrelated

Unrelated

Unrelated (11) et family (2)

Indiv.

Indiv.

Family

Number

2

3

1

1

4

1

1

1

1

3

2

13

1

1

4

Sex

F (2/2)

M (2/3), F (1/3)

M

M

M (1/1),

F (2/3)

M

F

M

M

M (1/3), F (2/3)

M (2/2)

M (5/13)

F (8/13)

F

M

M (1/4), F (3/4)

Mean age (years) and standard deviation

16 (0)

4, 27, 17

4.5 (0)

4.7 (0)

10 3 10 3

13 (0)

4.5 (0)

4

8.4 (0)

8 8.5 6

20, 24

6 16 7 28 40 23 5 10 59 38 5 1?

68 (0)

8 (0)

13 45 49 50

 Deletion / Duplication / Mutation

Breakpoint between exons 2 and 3

t(7;20) (q11.2;p11.2)

t(7;20) (q11.2;p11.2)

Breakpoint between exons 2–5; 5–6; 5–7

(Transloc.)

Breakpoint within intron 5

inv. (7)(q11.22q35);inv. (7)

Breakpoint within intron 1

(Transloc.)

Deletion of exon 6–14(×2); and duplication of exon 5(× 2)

Size: 133 to 319; 179 (2)

Deletion of exon 3–6

o.(Gln107*)

Size: 683–806

Deletion of exon 6

Size: 62

Distal deletion of exon 1

Size: 830

Breakpoint between intron 2 and 6, size 89 (Transloc.)

Deletion of exon 6(×2); 12–19(×1), Size: 98; 2147; 262

Deletion of exon 7; 6

p.(Lys286fs) / chr7.hg 19:g.(69985843_69991859)_(70,221,259_70,228,020)del

Deletions of exon 2–4 (× 2); 5(×3); 1–5(× 1); 6(× 2); 6–9(× 1); 9 fs(× 1);7st(× 1); 15–17; all deleted

Size: 50 to 4.5 Mb

Deletion of exon 6 and flanking introns 5 and 6

Size:

257

Deletion of exon 8

(p.Tyr488*)

(3b)

Duplication of exon 11–19

p.(Met593Tyrfs*85)

 Inherited / De novo

De novo

De novo (3)

De novo

De novo

De novo (1)

Inherited (2)

Parent not available (1)

De novo

De novo

De novo

De novo

De novo (3)

De novo

De novo (9)

Not available (2)

Inherited (2)

Not available

De novo

Inherited

 Developmental delay

2/2

1/3 (2/3 na)

1/1

1/1

4/4

1/1

1/1

1/1

3/3

3/3

2/2

+ (9/13)

1/1

1/1

2/4

 Intellectual Deficiency

Severe (2/2)

Severe (1/3)

Borderline (1/3)

Moderate (1/3)

1/1 (type na)

na

DQ: 5-year-old at 10 (1/4)

Vocabulary: 3 words at 3 (1/4)

Mild-moderate (2/4)

Intellectual disability (na)

na (“no full sentances”)

DQ: significantly delayed;

Developmental age: 11 months (at 4 years old)

Developmental age: 4 years (at 8 years

IQ below 40 (2/3)

IQ below 45 (1/3)

Moderate intellectual disability, IQ 45 (1/2)

IQ between 60 and 70 (1/2)

Mild borderline (5/13)

Mild (3/13)

Moderate (5/13)

Mild-Moderate

1/1 (type na)

Severe (1/4)

Mild-Moderate (1/4)

 ASD

2/2

?

1/1

1/1

2/4 (related)

0/1

?

1/1

2/3

2/3

2/2

10/13

1/1

1/1

2/4

 ADHD

na

2/2, na

na

na

na

0/1

–

1/1

3/3

3/3

1/2

7/13

1/1

1/1

–

 Generalized hypotonia

na

3/3

1/1

–

4/4

1/1

–

1/1

1/3

1/3

–

5/13

1/1

–

2/4

 Structural brain anomaly

- (EEG)

1/1, na (2)

1/1

na

0/2; na (2)

0/1

–

–

1/3

1/3

–

1/13

–

–

–

 Hypertonia/spasticity

1/2

1/3

na

–

na

na

1/1

1/1

–

–

–

7/13

na

–

–

 Epilepsy

2/2

1/3

–

–

1/4

- (one seizure)

–

Na (EEG normal)

2/3

2/3

na

2/13

–

na

–

 Low birth weight < p3

0/2

–

–

–

na

–

–

–

–

–

1/2

–

na

1/1

–

 Short stature < p10

2/2

3/3

–

–

1/3; na (1)

1/1

–

1/1

2/3

2/3

1/2

12/13

1/1

1/1

4/4

 Microcephaly < p2

1/2

na

na

na

1/4

1/1

–

–

1/3

1/3

2/2

10/12

1/1

1/1

–

 Feeding problems

na

3/3

1/1

–

na

1/1

na

2/3

2/2

11/13

1/1

1/1

1/4

 Sleep disturbance

na

1/3

na

na

na

na

na

na

na

1/13

na

na

1 or 2/4

 Dysmorphic features

?

+ (2/3)

–

+ (1/1)

+ (3/4)

+ (1/1)

–

–

+ (3/3)

+ (3/3)

+ (2/2)

+

+ (1/1)

+ (1/1)

4/4

 Skeletal abnormalities (Kyphosis/scoliosis or feet deformities)

+ (2/2)

+ (1/3)

na

na

1/4

na

+ (1/1)

–

1/3

1/3

+ (2/2)

+ (5/13)

+ (1/1)

- (1/1)

+ (4/4)