We describe two children with the velocardiofacial syndrome and benign partial-onset seizures. Both presented with slight dysmorphic traits, mild to moderate mental delay, and high-arched palate. A cardiac defect was present in only one of them. In each patient, sporadic rolandic or occipital partia
β¦ LIBER β¦
Cognition, psychosocial adjustment and coping in familial cases of velocardiofacial syndrome
β Scribed by D. Gothelf; A. Aviram-Goldring; M. Burg; T. Steinberg; M. Mahajnah; A. Frisch; S. Fennig; G. Zalsman; A. Weizman
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 110 KB
- Volume
- 114
- Category
- Article
- ISSN
- 1435-1463
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## Abstract Familial 22q11.2 deletions have been reported as a 6%β28% of the total affected cases of 22q11.2 microdeletion syndrome (del22q11.2). Different deletion genotypes have been described for this disorder, with a predominant 3 Mb deletion present in 90% of the cases, a less common 1.5β2 Mb