Table 2 Prevalence of phenotypic characteristics in patients with microdeletion 22q11.2 in comparison to the published data
From: Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland
Feature | Results of our study | Other authors |
|---|---|---|
The prevalence of 22q11.2 microdeletion | 14.96% | 48% (Iserin i wsp., 1998) |
| Â | Â | 29% (Goldmuntz i wsp., 1993), |
| Â | Â | 11.62% (Yakut i wsp., 2006), |
| Â | Â | 9.4% Barisic et al.2008 |
| Â | Â | 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 |
| Â | Â | ToF 66.66% Barisic et al.2008 |
| Â | Â | ToF 17% Ryan et al., 1997 |
The most frequent non- conotruncal heart defect | ASDII+VSD 15.38% | 16.66% Barisic et al, 2008 |
| Â | 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 |
| Â | Â | 0% Yong et al, 1999 |
Palatopharyngeal insufficiency | 15.38% | 32% Persson et al, 2003 |
| Â | Â | 32% Ryan et al., 1997 |
Thymic hypoplasia | 30.76% | 91% Oskarsdottir et al, 2005 |
Hypocalcaemia | 15.38% | 32.89% Choi et al, 2005 |
| Â | Â | 60% Ryan et al., 1997 |
Mental retardation | 1% | 35-40% Ryan et al, 1997 |
Non-typical feature | 61% | 50% Oskarsdottir et al, 2005 |