A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

Table 1 Clinical characterization of two patients with 22q11.2 alterations and comparison with previously reported cases

Features	Case 1	Other cases^a	Case 2		Yobb et al., 2005 [10]
Features	Case 1	Other cases^a	Patient	Father	Patient	Mother
22q11.2 region	Dup	Dup	Trip	Dup	Trip	Dup
Age at last evaluation (years)	24		20	63	8
Gender	F		F	M	F	F
Heart defect	+	+	+		−
Velopharyngeal insufficiency	−	+	+		−
Palatal defect	+	+	−		−
Hearing impairment	−	+	+		+^c
Failure to thrive	−	+	−		−
Roncopathy/sleep apnea	−	+	+		−
Urogenital abnormalities	−	+	+		−
Cognitive deficits	+	+	+^b	+	−
Psychiatric disorders	+	+	+
Behavioral problems	−	+			+
Seizures	−	+	−		−
Headache	+		+^b
Hand/foot abnormality	−	+	−		+	+
Dysmorphic features
− Head
Microcephaly	−	+	−		−
Long narrow face	+	+	+
Proeminent forehead	+	+	−
− Eyes
Hypertelorism	+	+	+
Epicanthal folds	+	+	+		+
Upslanting palpebral fissures	+	+	−
Downslanting palpebral fissures	−	+	+
Superior placement of eyebrows	+	+	−
Strabismus	−	+	+^b
Myopia	+	+	+^b
− Nose
Broad nasal bridge	+	+	−
Proeminent nose	+	+	+
Long philtrum	+		+
Smooth philtrum	+	+	+
− Ears
Dysplastic ears	+	+	−
Preauricular fistula	+	+	−
− Mouth
Micrognathia	+	+	−		−
Retrognathia	+	+	+
Supernumerary teeth (hyperdontia)	+		−
Dental cavities	+	+	+
Additional features
− Recurrent infections	+	+	+
− Skeletal
Hiperlaxity	−	+	−
Other	−	+	−
− Dermatologic abnormalities	−		+^b
− Allergies	+		+

^aAccording to [2, 10, 23, 24]
^bSturge-Weber syndrome’s symptoms that are likely unrelated to the 22q11.2 triplication
^cHearing impairment was probably secondary to otitis media

ISSN: 1471-2431