Table 2.
Comparison of clinical features of 2q23.1 deletion in this study and other cohorts or MBD5 specific mutation
|
Clinical Features |
MBD5-specific mutation
20,22–24
|
2q23.1 Deletion
20,22–24
|
Case in this study |
||
|---|---|---|---|---|---|
| Number | Percentage | Number | Percentage | +, present; - absent | |
|
Neurological |
|
|
|
|
|
| Development delay |
20/21 |
95% |
53/55 |
96% |
+ |
| Language impairment |
12/21 |
57% |
38/55 |
69% |
+ |
| Seizure |
11/21 |
52% |
32/55 |
58% |
+ |
| Infantile spasms |
0/21 |
0 |
0/55 |
0 |
+ |
| Infantile hypotonia |
4/21 |
19% |
23/55 |
41% |
+ |
|
Growth/Endocrine |
|
|
|
|
|
| Short stature |
5/21 |
24% |
25/55 |
45% |
- |
| Local hirsutism |
0/21 |
0 |
4/55 |
7% |
- |
|
Craniofacial abnormalities |
|
|
|
|
|
| Coarse face |
0/21 |
0 |
3/55 |
5% |
+ |
| Broad forehead |
3/21 |
14% |
4/55 |
7% |
+ |
| Microcephaly |
1/21 |
5% |
26/55 |
47% |
+(<2SD) |
| Synophrys |
2/21 |
9% |
10/55 |
18% |
+mild |
| Nasal abnormalities |
7/21 |
33% |
35/55 |
64% |
+ |
| Open mouth |
3/21 |
14% |
23/55 |
42% |
+ |
| Downturned corners of the mouth |
3/21 |
14% |
17/55 |
31% |
+ |
| Macroglossia or protruding tongue |
2/21 |
9% |
6/55 |
11% |
- |
| Dental abnormalities |
4/21 |
19% |
13/55 |
24% |
|
|
Skeletal abnormalities |
|
|
|
|
+ |
| Small hands and feet |
1/21 |
5% |
23/55 |
42% |
+ |
| Clinodactyly, 5th finger |
2/21 |
9% |
22/55 |
40% |
+ |
| Brachydactyly |
0/21 |
0 |
13/55 |
24% |
+ |
| Short fifth digit of hands/feet |
1/21 |
5% |
14/55 |
25% |
+ |
| Absent hallux |
0/21 |
0 |
0/55 |
0 |
+ |
|
Behaviors |
|
|
|
|
- |
| Autistic feature |
13/21 |
62% |
44/55 |
80% |
+ |
| Sleep disturbance |
5/21 |
24% |
17/55 |
31% |
ND |
| Self-injurious behavior |
2/21 |
9% |
17/55 |
31% |
+ |
|
Other |
|
|
|
|
- |
| Cardiovascular abnormalities |
1/21 |
5% |
4/55 |
7% |
- |
| Urogenital abnormalities | 1/21 | 45% | 1/55 | 2% | - |
ND, not documented.