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Behavioral abnormalities are common and severe in patients with distal 22q11.2 microdeletions and microduplications

We describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement. Two of the six patients with abnormalities...

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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: Lindgren, Valerie, McRae, Anne, Dineen, Richard, Saulsberry, Alexandria, Hoganson, George, Schrift, Michael
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Ltd 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521969/
https://ncbi.nlm.nih.gov/pubmed/26247050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.146
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