An Interstitial Deletion at 7q33-36.1 in a Patient with Intellectual Disability, Significant Language Delay, and Severe Microcephaly

Table 1

Clinical features in patients with interstitial deletions overlapping the 7q33-36.1 region.

Characteristic traits	Present study	Rush et al., 2013 [6]	Sehested et al., 2010 [7]	Sehested et al., 2010 [7]	Dilzell et al., 2015 [8]	Bisgaard et al., 2006 [4]	Fagan et al., 1994 [9]	Rossi et al., 2008 [10]	Caselli et al., 2008 [5]
Chromosomal deletion	7q33-36.1	7q34-36.1	7q34-36.2	7q34-36.2	7q33-35	7q34-36.2	7q35	7q33-35	7q36.1-36.2
Gender	Male	Female	Male	Female	Female	Females (twins)	Female	Female	Female
Neurodevelopmental features
Developmental delay/	+	+		+	+	+	+		+
intellectual disability
Autism spectrum disorder			+					+
Attention deficit	+	+		+		+			+
Language delay	+	+	+	+	+	+	+	+	+
Abnormal brain MRI	+				+
Seizures	−	+	+	+	+	+		+	+
Insomnia	+				+			+
Craniofacial features
Microcephaly	+	−	−	−		+
Deep-set eyes	−	+	+	+		+		+	+
Hypermetropia	−	−	−	+		+
Hypertelorism	−	−	+	+	+	−		+
Epicanthal folds	−	−					+
Broad/depressed nasal bridge		+						+	+
Bulbous nose	+	+	+	+	+	+	+	+	+
Abnormal philtrum	+	−			+			+
Thin upper lip	+	−			+	−
Cleft lip/palate	−	+	−	−	−	−	−	−	−
Micrognathia	−	−					+
Retrognathia	+	−
Low set ears	−	−		+			+
Preauricular pits	−	−			+			+
Abnormal pinnae	+	+
Other
Hearing impairment	−	+	−	−	+	+			−
Short stature	+	+	+	+		+		+	−
Long slender fingers	+							+
Ophthalmologic abnormality	+			+	+	+	+
Long QT syndrome	−	−	−	−		+			+
Renal hypoplasia			−	−		+			+