Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.
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ABSTRACT:
SUBMITTER: Okuno M
PROVIDER: S-EPMC4785576 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Publications
Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.
Okuno Misako M Ogata Tsutomu T Nakabayashi Kazuhiko K Urakami Tatsuhiko T Fukami Maki M Nagasaki Keisuke K
Human genome variation 20150702
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 manifested mental retardation, mild brain anomalies and skeletal deformities ascribable to these CNVs, together with central precocious puberty and mild adrenocorticotropic hormone overproduction of unknown ...[more]
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