Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

In a screen of patients by fluorescence in-situ hybridization and array comparative genomic hybridization in the past two years (July 2007--July 2009), we identified two patients with duplications in the 22q11.22-23, occurring outside the common DiGeorge syndrome/valocardiofacial syndrome region. Fl...

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Pubblicato in:J Pediatr Genet
Autori principali: Hantash, Feras M., Wang, Boris T., Owen, Renius, Ross, Leslie P., Mahon, Loretta W., Boyar, Fatih Z., Anguiano, Arturo, Strom, Charles M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Georg Thieme Verlag KG 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020930/
https://ncbi.nlm.nih.gov/pubmed/27625811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-019
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