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Table 2 Summary of the clinical features of our patients and the 10 previously reported patients

From: A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree

 

Current study

Previous studies

 

The proband

(II-3)

Her mother

(I-2)

Her younger brother (II-5)

Her elder son (III-2)

Her younger son (III-3)

 

Gender

      

Female

Yes

Yes

No

No

No

7 (70%)

NRAS gene deleted

No

No

No

No

No

10 (100%)

Short stature

No

No

No

No

No

5 (50%)

Facial appearance

     

6 (60%)

Full eyebrows

Yes

NP

NP

Yes

Yes

1 (10%)

Hypertelorism

Yes

NP

NP

Yes

Yes

2 (20%)

Ptosis

Yes

NP

NP

Yes

Yes

2 (20%)

Low-set ears

Yes

NP

NP

Yes

Yes

3 (30%)

Upturned nose

Yes

NP

NP

Yes

Yes

1 (10%)

Overbite

Yes

NP

NP

Yes

Yes

0

Open mouth

Yes

NP

NP

Yes

Yes

1 (10%)

Neck abnormality

Yes

NP

NP

Yes

Yes

5 (50%)

Neurodevelopmental disorder

      

Intellectual disability

Yes

Yes

Yes

Yes

Yes

9 (90%)

Language impairments

Yes

Yes

Yes

Yes

Yes

8 (80%)

Gross motor developmental delay

Unknown*

Unknown*

Unknown*

Unknown*

Unknown*

8 (80%)

Epilepsy

No

No

No

No

No

2 (20%)

Behavioral problems

No

No

No

No

No

1 (10%)

  1. NP, The clinical phenotypes was not provided by the proband’s family; *, The patients in the current study could sit, walk and run without support, but their gross motor milestones were unclear