Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Table 2 Overview of the clinical presentation of different numbers of idic(15) as reported in the literature

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

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