The neuropsychology of 22q11 deletion syndrome. A neuropsychiatric study of 100 individuals
โ Scribed by Lena Niklasson; Christopher Gillberg
- Book ID
- 116870049
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 170 KB
- Volume
- 31
- Category
- Article
- ISSN
- 0891-4222
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A 27 weeks' gestation fetus, evaluated because of polyhydramnios, was found by echocardiography to have an interrupted aortic arch type B. Because of the known association between this malformation and DiGeorge syndrome, an amniocentesis was performed. Fluorescence in situ hybridization revealed a 2
## Deletions at 22q11.1-q11.2 present with variable manifestations usually referred to as DiGeorge or velo-cardio-facial syndrome. We previously reported that deletions observed in patients with the syndrome can be subgrouped into three types (common large deletion, proximal deletion, and distal d