|
Clinical phenotype
|
Tetrasomy (N = 44) [7, 11,12,13,14,15,16,17,18]
|
Hexasomy (N = 8) [9, 20,21,23]
|
Octosomy (N = 3)a [32, 33]
|
|---|
|
Mental retardation
|
33/44(75%)
|
6/8(75%)
|
3/3
|
|
Autism
|
10/44(22.7%)
|
2/8(25%)
|
_
|
|
Seizures
|
17/44(38.6%)
|
7/8(87.5%)
|
1/3
|
|
Aggressiveness
|
18/44(40.9%)
|
6/8(75%)
|
1/3
|
|
Sleep problems
|
4/44(9.1%)
|
_
|
1
|
|
Short stature
|
10/44(22.7%)
|
_
|
2/3
|
|
Language delay
|
17/44(38.6%)
|
6/8(75%)
|
1/3
|
|
Abnormal EEG
|
10/44(22.7%)
|
5/8(62.5%)
|
_
|
|
Abnormal MRI
|
6/44(13.6%)
|
2/8(25%)
|
normal
|
|
Dizziness
|
_
|
1/8(12.5%)
|
_
|
|
Mild facial anomalies
|
26/44(59.1%)
|
7/8(87.5%)
|
2/3
|
|
Strabismus
|
7/44(15.9%)
|
_
|
_
|
|
Nystagmus
|
1/44(2.3%)
|
_
|
1/3
|
|
Tympanitis/nervous deafness
|
16/44(36.4%)
|
2/8(25%)
|
normal
|
|
Cleft palate
|
_
|
1/8(12.5%)
|
1/3
|
|
Short neck
|
_
|
1/8(12.5%)
|
_
|
|
Low muscle tension
|
27/44(61.3%)
|
6/8(75%)
|
1/3
|
|
Hyperpigmentation
|
6/44(13.6%)
|
3/8(37.5%)
|
1/3
|
|
Bone disorders
|
4/44(9.1%)
|
1/8(12.5%)
|
_
|
|
Cryptorchidism
|
1/44(2.3%)
|
1/8(12.5%)
|
_
|
|
Joint abnormality
|
6/44(13.6%)
|
5/8(62.5%)
|
_
|
|
Exaggerated tendon reflex
|
1/44(2.3%)
|
1/8(12.5%)
|
Normal or _
|
|
Cannot walk
|
3/44(6.8%)
|
2/8(25%)
|
1/3
|
- N the total number of patients, _ not available or no phenotype, EEG electroencephalography, MRI magnetic resonance imaging
- athe data were obtained from patients in our study, in the literature and in databases
