Table 2. Clinical features of patients with duplications in chromosome 17q12.

	Patient 5	Patient 6	Patient 7	Patient 8	Patient 9
Age at evaluation	4 years 6 months	4 years 5 months	45 years	4 years 4 months	3 years 4 months
Sex	M	M	F	F	M
Dysmorphic features	−	−	−	−	+
Nervous system
Developmental delay/cognitive impairment	−	+	+	+	+
Seizures	−	−	−	−	−
Hypotonia	−	−	−	−	−
Hypertonia	−	−	−	−	−
Structural brain abnormalities	−	−	NA	NA	NA
Hearing loss	−	−	−	NA	NA
Renal
Cysts	−	NA	NA	NA	NA
Renal function	Normal	NA	NA	NA	NA
Renal imaging	Normal	NA	NA	NA	NA
Diabetes	−	NA	NA	NA	NA

Abbreviations: +, a characteristic is present; –, a characteristic is absent; F, female; M, male; NA, datum was not available.