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Table 1 Contrast of the clinical features of patients with 8p23.3p23.2 pure deletion in the present study

From: Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay

Patient

Wu et al

Chien et al

Burnside et al

Shi et al

Present study

No.1

No.2

No.3

Age/Sex

1y/F

12y/M

2y/F

4y/M

26y/M

5y/M

4y/M

Size(Mb)

2.06

2.4

3.6

4.8

7.02

6

2.373

Microcephaly

 + 

 − 

 + 

 + 

 − 

 + 

 − 

Facial dysmorphism

 + 

 − 

 + 

 + 

 + 

 + 

 − 

Epilepsia

 − 

 + 

 − 

 − 

 − 

 − 

 − 

Balance/co-ordination problems

 − 

 − 

 + 

 + 

 − 

 + 

 + 

Autism spectrum disorder

N.D

 + 

 − 

 − 

 − 

 + 

 − 

Behavioural problems (type)

N.D

ADHD, impulsivity

 − 

 − 

Psychology, neurology

ADHD, hyperactivity, impulsivity

Hyperactivity, impulsivity

Candidate gene

DLGAP2, CLN8, ARHGEF10

DLGAP2, CLN8, ARHGEF10

DLGAP2, CLN8, ARHGEF10, CSMD1

DLGAP2, CLN8, ARHGEF10,CSMD1

DLGAP2, CLN8, ARHGEF10

  1. F female, M male, y year, − feature absent, + feature present, N.D. not descriped, ADHD attention-deficit hyperactivity disorder