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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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Okuno, Misako, Ogata, Tsutomu, Nakabayashi, Kazuhiko, Urakami, Tatsuhiko, Fukami, Maki, Nagasaki, Keisuke
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785576/
https://ncbi.nlm.nih.gov/pubmed/27081533
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.20
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