Table 1. Clinical features in patients with molecularly characterized and overlapping interstitial deletions involving the 18q12.2 region.

Reference	Present report	Gilling et al13	McEntagart et al10	Published patientsa (not fine mapped and/or not phenotyped in detail)	Total
Number of patients	1	1	1	18	21
Examination method	SNP array, NGS	aCGH, FISH	aCGH	Karyotype/aCGH/FISH	—
Deletion	18q12q12.2	18q12.1q12.2	18q11.2q12.2	Unbalancedb	—
Age (years)	27	38	4	2–67	2–67
Gender	M	F	M	6F, 12M	7F, 14M
ID/DD	(+)c	−	+	18/18	20/21
Motor delay	+	+	+	12/12	15/15
Seizures	+	−	+	11/16	13/19
Hypotonia	+	−	NR	8/11	9/13
Behavioral difficulties	+	+	+	11/13d	14/16
ASD/autistic traits	+	+	NR	4/5	6/7
Obesity	+	NR	NR	9/13d	10/14
Strabismus	−	NR	NR	8/11d	8/12
Myopia	+	+	NR	1/4	3/6
Hypermetropia	−	−	NR	2/4	2/6
Dysmorphic features	−	−	−	15/16	15/19

Abbreviations: aCGH, array comparative genome hybridization; ASD, autism spectrum disorder; F, female; FISH, fluorescence in situ hybridization; ID/DD, intellectual disability or developmental delay; M, male; NR, not reported; SNP, single-nucleotide polymorphism.

^aChudley et al^{1, 7}; Engelen et al⁹; Feenstra et al¹²; Krasikov et al⁶; Poissonnier et al⁸; Schinzel et al⁴; Surh et al⁵; Wilson et al.^{2, 3}

^bCytogenetic unbalances (range 18q11–18q21.1), all include 18q12.2.

^cIntelligence quotient=71.

^dFeenstra et al¹² note that common features in the studied group of 29 patients include obesity, strabismus, and behavioral problems. Since it is not specified if the 2 reported patients with deletions overlapping 18q12.2 have these features, they are not counted here.