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Table 1
Phenotype of patients with "atypical" 22q11 distal deletions
	Garcia-Minaur¹⁸ LCR30–LCR4 ~1.5 Mb microsats/FISH 1 case (pat)	Our case ~1.4 Mb oligo array	Ben Shachar⁸ LCR4–LCR5 ~1.4 Mb BAC arrays 4 Cases	Saitta¹⁰ LCR4–LCR6 ~2.1 Mb cosmid FISH 1 case	Ben Shachar⁸ LCR4–LCR6 ~2.1 Mb BAC arrays 2 Cases	Rauch⁷ LCR4–LCR6 ~2.1 Mb FISH/PCR 1 case	Mikhail⁹ LCR4–LCR6 1.55–1.92 Mb BAC arrays 1 case

Cardiac defect	TOF	VSD+ASD	1/4 bicuspid aortic valve	VSD+ truncus arteriosus	1-/2 truncus arteriosus	VSD	-
bifid uvula				+
cleft palate			-		1/2
short stature		+		+
microcephaly		+		+
hypoplastic nasal alae			3/4	+	1/2
smooth philtrum			+	+	+
dev delay			3/4		+
arched eyebrows			2/4		+		+

Ogilvie et al. Molecular Cytogenetics 2009 2:9 doi:10.1186/1755-8166-2-9

Table 1