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Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp

We report a male patient with three copy-number variations (CNVs) and unique phenotype. He carried ~11.2 Mb terminal duplication on 4q, ~13.4 Mb terminal deletion on 7q and ~1.7 Mb interstitial duplication on Xp22.31, which were identified by array-based comparative genomic hybridization. He manifes...

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Detalles Bibliográficos
Autores principales:	Okuno, Misako, Ogata, Tsutomu, Nakabayashi, Kazuhiko, Urakami, Tatsuhiko, Fukami, Maki, Nagasaki, Keisuke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785576/ https://www.ncbi.nlm.nih.gov/pubmed/27081533 http://dx.doi.org/10.1038/hgv.2015.20

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