Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

BACKGROUND: Recently, array-comparative genomic hybridization (aCGH) platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we report on a young man with unexplained severe mental retard...

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Autori principali: Mulatinho, Milene Vianna, de Carvalho Serao, Cassio Luiz, Scalco, Fernanda, Hardekopf, David, Pekova, Sona, Mrasek, Kristin, Liehr, Thomas, Weise, Anja, Rao, Nagesh, Llerena, Juan Clinton
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2012
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Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3407782/
https://ncbi.nlm.nih.gov/pubmed/22686481
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1755-8166-5-30
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