Table 3

Clinical signs of patients with duplication 8p, with unbalanced translocation t(4p;8p), with monosomy 4p, with trisomy 7p, and reported patients

inv dup 8p^3-150

dir dup 8p^3-151

t (4p;8p)^3-152

Our
patients 1–5

WHS^3-153

Our patient 6

Trisomy 7p^3-154

Duplicated segment

At least 8p21.1-p21.3

8p22-p23.1 or 8p21.3-p22

8p21-pter

7/24

7p11.2-pter

−

8p23.1-pter

Monosomic segment

8p23.1-pter in 6 cases

none

4p15.3-pter

4p14-16

7q36-qter

−

4p16.3-pter

De novo

14/15

−

0/8

4/5

8/11

2/3

Sex

12 F; 8 M

3 F; 3 M

2 F; 6 M

5 F

14 F; 10 M

2 M; 1 F

Mental retardation

20/20

5/6

8/8

5/5

22/23

3/3

Muscular hypotonia

13/13

0/6

4/4

4/5

20/24

2/2

Seizures/EEG anomaly

1/2

0/6

5/8

4/5

18/24

Normal birth weight

7/8

4/4

0/6

0/5

0/13

−

2/3

Low birth weight (<3rd centile)

1/17

0/4

6/6

5/5

13/13

1/3

Postnatal normal stature

3/6

3/5

0/6

0/5

4/23

−

0/2

Postnatal short stature

2/6

2/5

6/6

5/5

19/23

2/2

Absence of dysmorphic signs

10/10

2/3

0/8

0/5

0/23

−

0/3

Craniofacial anomalies

Microcephaly

3/14

0/6

5/5

20/24

−

2/3

Macrocephaly

2/14

0/6

0/5

0/13

−

1/3

Wide open fontanelles

0/1

3/5

3/3

Flat occiput

8/13

0/3

1/1

1/2

−

Prominent forehead

13/18

3/6

5/5

8/11

2/3

Prominent glabella

0/5

0/3

4/5

3/5

18/24

−

0/3

Hypertelorism

3/15

1/3

7/7

5/5

20/24

3/3

Hypotelorism

3/15

0/3

0/7

0/5

0/13

−

0/3

Strabismus

1/1

0/3

3/4

4/5

13/23

Broad nasal bridge

11/17

3/6

6/6

5/5

20/24

1/3

Narrow nasal bridge

2/6

0/3

0/6

0/5

0/13

−

1/3

Anteverted nares

7/18

0/3

1/4

0/5

−

2/3

Beaked nose

3/6

0/3

2/6

0/5

6/11

1/2

Short philtrum

1/6

7/7

3/5

13/13

1/2

Long philtrum

2/6

0/6

0/7

0/5

0/13

−

2/3

Large mouth

14/19

0/6

4/5

2/5

10/13

1/3

Downturned corners of mouth

1/5

0/3

3/4

5/5

13/13

1/3

Thin upper lip

9/17

2/6

2/5

4/5

6/13

3/3

High arched palate

10/13

0/3

1/3

0/2

2/11

Cleft lip/palate

0/3

4/5

3/5

8/24

−

Abnormal dentition

12/13

1/5

3/3

1/1

1/11

−

1/1

Micrognathia

6/8

0/6

6/8

5/5

18/24

3/3

Large chin

2/8

1/6

1/5

0/5

0/13

−

1/3

Small ears

0/9

0/3

0/5

1/11

Large ears

8/9

0/3

0/5

2/11

−

Dysplastic ears

15/18

0/3

6/7

5/5

18/24

3/3

Brain anomalies

Enlarged ventricles

2/6

0/3

1/2

0/2

1/1

Agenesis of corpus callosum

4/6

0/3

0/2

Cortical atrophy

2/6

0/3

0/2

Congenital heart defect

5/12

0/6

3/5

2/5

6/24

2/3

Scoliosis

6/13

0/3

1/3

0/5

3/13

−

Hypoplastic external genitalia

1/2

0/5

2/2

1/4

3/11

2/2

Hypospadias

0/5

5/5

7/10

0/2

Renal anomalies

1/2

0/3

2/5

1/3

2/11

Inguinal/umbilical hernia

3/13

0/3

2/2

0/3

−

Megacolon

0/3

0/2

0/3

1/1

↵3-150 Refs 53–58, 61.
↵3-151 Refs 60 and 61.
↵3-152 Refs 37, 46–51; 10 was not included because of lack of clinical description.
↵3-153 Refs 6 and 62.
↵3-154 Refs 65–67.