Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism

We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The i...

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Xehetasun bibliografikoak
Argitaratua izan da:Am J Med Genet A
Egile Nagusiak: Devillard, Françoise, Guinchat, Vincent, Moreno-De-Luca, Daniel, Tabet, Anne-Claude, Gruchy, Nicolas, Guillem, Pascale, Nguyen Morel, Marie-Ange, Leporrier, Nathalie, Leboyer, Marion, Jouk, Pierre-Simon, Lespinasse, James, Betancur, Catalina
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wiley-Blackwell 2010
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4906125/
https://ncbi.nlm.nih.gov/pubmed/20684015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33601
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