Table 1.

Neurocognitive and Behavioral Phenotype of Nine Patients with 17q12 Deletions

	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8	Case 9	Total
Inheritance	de novo	de novo	de novo	de novo	U	maternal (son of Case 5)	de novo	de novo	de novo
Sex	female	male	male	male	female	male	female	male	male
Current age	19 y	4 y	7 y	12 y	37 y	1 y, 9 months	1 y, 10 months	10 y	22 y
Autism or autistic features	-	+	+	+	-	+	-	+	+	6/9 in total (66%); 6/6 males (100%); 0/3 females (0%)
Deficits in coordination and motor skills	U	+	+	+	U	+	+	+	+	7/7 (100%)
Intellectual impairment	-	+	+	+	+	+	+	+	+	8/9 (89%)
Language impairment	-	+	+	+	-	+	+	+	-	6/9 (67%)
Anxiety	-	-	+	+	+	-	-	+	+	5/9 (56%)
Aggression	-	+	-	+	-	-	-	-	-	2/9 (22%)
Other behaviors and neuropsychiatric comorbidities	depression, migraines	unusual phobias, hyperactivity, short attention span, extremely selective diet	occasional unmotivated giggling, extremely selective diet	mood changes, obsessive-compulsive behaviors	bipolar disorder	irritability, minimal response to pain	-	self-injurious behaviors, pica, short attention span	mood changes

Abbreviations: +, present; -, absent; U, unknown; y, years.