Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities

Table 1 Features seen in Case 1 compared to 22q11 duplication syndrome and in Case 2 compared to 22q11 deletion syndrome

Feature	22q11 duplication syndrome	Case 1	22q11 deletion syndrome	Case 2
Craniofacial abnormalities	x	-	+	microcephalic, plageocephalic, overriding sutures, hypotelorism, and depressed nasal bridge
Congenital heart defect	x	-	conotruncal malformations	small patent ductus arteriosus
Palatal defect		NR	+	cleft lip, absent nasal septum, and cleft maxilla papilla
Ophthalmologic abnormalities		-	+	NR
Hearing loss	x	-	+	NR
Urogenital	x	NR	+	grade two hydronephrosis of the right kidney
Intellectual disability/learning disability	x	NR	+	NR
Psychiatric disorder	anxiety	NR	anxiety	NR
Attention deficit hyperactivity disorder		+	+	NR
Autism spectrum disorder		+	+	NR
Behavioral problems	x	NR	+	NR
Speech delay	x	+	+	NR
Growth delay	x	NR	+	NR
Hypotonia	x	NR	+	truncal and appendicular hypotonia
Seizures		NR	+	+
Central nervous system malformation		Chiari I malformation
Immune deficiency			+	NR

ISSN: 1755-8166