Table 2.

Prevalence of phenotypic characteristics in patients with microdeletion 22q11.2 in comparison to the published data

Feature	Results of our study	Other authors
The prevalence of 22q11.2 microdeletion	14.96%	48% (Iserin i wsp., 1998)
		29% (Goldmuntz i wsp., 1993),
		11.62% (Yakut i wsp., 2006),
		9.4% Barisic et al.2008
		6.16% Halder et al., 2010
Presence of heart defect	100%	75% (Ryan et al., 1997)
The most frequent conotruncal heart defect	ToF 53.84%	ToF 100% Halder et al., 2010
		ToF 66.66% Barisic et al.2008
		ToF 17% Ryan et al., 1997
The most frequent non- conotruncal heart defect	ASDII+VSD 15.38%	16.66% Barisic et al, 2008
	VSD 15.38%	14% Ryan et al., 1997
Face dysmorphia	84.51%	50-100% Yakut et al, 2006
Cleft palate	0%	9% Rayan et al, 1997
		0% Yong et al, 1999
Palatopharyngeal insufficiency	15.38%	32% Persson et al, 2003
		32% Ryan et al., 1997
Thymic hypoplasia	30.76%	91% Oskarsdottir et al, 2005
Hypocalcaemia	15.38%	32.89% Choi et al, 2005
		60% Ryan et al., 1997
Mental retardation	1%	35-40% Ryan et al, 1997
Non-typical feature	61%	50% Oskarsdottir et al, 2005