Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Table 1

Clinical phenotype in our proband and previously reported patients with 17q12 deletion.

	Our proband	Moreno-De-Luca et al. (2010) [6]	Nagamani et al. (2010) [5]	Dixit et al. (2012) [2]	Hinkes et al. (2012) [3]	George et al. (2012) [1]	Loirat et al. (2010) [4]
Clinical findings
Mild facial dysmorphism	+	9/9	2/9	2/3	NR	NR	NR
Ptosis	+	NR	NR	1/3	NR	NR	NR
Long philtrum	+	NR	NR	2/3	NR	NR	NR
Long, narrow face	+	NR	NR	0/3	NR	NR	NR
Pectus deformity	+	NR	NR	0/3	NR	NR	NR
Joint laxity	+	NR	NR	0/3	+	NR	NR
Marfanoid body habitus	+	0/9	0/9	0/3	NR	0/2	0/3
Short stature or failure to thrive	—	1/9	3/9	1/3	NR	0/2	0/3
Kidney cysts/anomalies	—	Most*	4/9	3/3	+	1/2	3/3
Small pancreas	+	NR	NR	0/3	NR	NR	0/3
Splenomegaly	+	NR	NR	0/3	NR	NR	NR
Behavioral and cognitive features
Autism spectrum disorder (ASD)	+	6/9	0/9	1/3	—	0/2	3/3
Developmental delay or intellectual disability	+	8/9	8/9	3/3	—	2/2	3/3
Seizures	—	0/9	2/9	0/3	—	NR	NR
Aggression	+	2/9	2/9	NR	—	NR	NR
Anxiety/disruptive behavior	+	5/9	NR	NR	—	1/2	NR
Hyperactivity	+	2/9	NR	NR	—	1/2	NR
Laboratory testing
Neonatal hypercalcemia	NR	NR	NR	3/3	NR	NR	NR
Diabetes mellitus	—	1/9	NR	0/3	+	0/2	NR

+: feature is present, —: feature is absent, NR: not reported.
*Most of the 9 patients had kidney cystic anomalies but no specific number is given.