Table 1

Clinical features of patients with microdeletion encompassing the 2q23.1 region

	Classical Angelmansyndrome	Patient 1This study	Patient 2This study	Patient 3Vissers *et al,* 200313Koolen *et al,* 200414	Patient 4De Vries *et al,* 200515	Patient 5De Gregori *et al,* 200716
Sex		Male	Male	Female	Female	Male
Psychomotor retardation	Severe	Severe	Severe	Severe	Severe	+
Language impairment	<6 words	Severe	Severe	Moderate	NR	+
Behavioural disabilities	Inappropriate laughter, happy disposition	Inappropriate laughter	Inappropriate laughter, aggressiveness, autistic comportment	NR	Picking the eyes, hyperpnoea, putting full hands into the mouth	Bruxism
Sleeping difficulties	+	–	+	NR	NR	NR
Postnatal growth retardation	+	+	+ (weight)	+ (height)	+	NR
Microcephaly	+	+	+ (relative)	+	+	NR
Seizures	+	+	+	+	+	+
Ataxia	+	+	+	NR	NR	NR
Feeding difficulties	+	–	+	+	NR	NR
Hypotonia	+	–	–	+	NR	NR
Facial dysmorphia		Mild		Coarse facies		Mild
Brachycephaly	+	–	+	–	–
Large mouth	+	+	+	–	+
Broad chin	+	–	–	+	+
Prognathism	+	–	+	–	–
Teeth anomalies	+	–	+	+	–
Macroglossia	+	–	+	–	–
Mid face hypoplasia	+	–	+	–	–
Other		HypertelorismFlat noseLong lashes	Low implantation of the hair on the neckShort columella	Upslanting palpebral fissures, hypotelorismSmall upturned noseMalformed earsSmall carp shaped mouthNarrow flat palate	High foreheadFull round faceLight blue irisesSmall ears, large lobulesShort philtrumFull lips
Hand/foot abnormalities	–	+	+	+	+	NR
Clinodactyly fifth finger		–	+	+	+
Syndactyly II–III		–	–	+	–
Sandal gap		–	–	+	–
Valgus feet		+	–	–	–
Other congenital features		Scoliosis, hemivertebra	Hypogenitalism	Hirsutism (lower extremities)	NR	NR
		Hypermetropia	Constipation
		Astigmatism	Pseudoarthrosis of the clavicle
		Constipation	Pseudoarthrosis of the clavicle

NR, not reported.
+, presence; –, absence.