title: Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.
abstract: 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.
authors.affiliation: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Nihon University School of Medicine, Tokyo, Japan.
authors.forename: Misako
authors.initials: M
authors.lastname: Okuno
authors.affiliation: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
authors.forename: Tsutomu
authors.identifier: 0000-0001-7178-9991
authors.initials: T
authors.lastname: Ogata
authors.affiliation: Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development , Tokyo, Japan.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakabayashi
authors.affiliation: Department of Pediatrics, Nihon University School of Medicine , Tokyo, Japan.
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Urakami
authors.affiliation: Department of Molecular Endocrinology, National Research Institute for Child Health and Development , Tokyo, Japan.
authors.forename: Maki
authors.initials: M
authors.lastname: Fukami
authors.affiliation: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan; Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Keisuke
authors.initials: K
authors.lastname: Nagasaki