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...

Descripción completa

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
Descripción
Sumario: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 etiologies.

Ejemplares similares