title: Severe growth hormone deficiency and pituitary malformation in a patient with chromosome 2p25 duplication and 2q37 deletion.
abstract: We report on a male child ascertained at 4.8 years of age with severe growth failure, growth hormone (GH) deficiency, psychomotor delay with prevalent speech impairment, and a distinct phenotype. An evaluation of his hypothalamic-pituitary region by Magnetic Resonance Imaging (MRI) revealed pituitary hypoplasia with pituitary stalk interruption and ectopic posterior pituitary lobe, which are considered prognostic markers of permanent GH deficiency. Prenatal chromosome analysis because of increased nuchal translucency revealed a normal male karyotype, whereas postnatal high resolution banding raised the suspicion of a 2q abnormality. Subsequently, array Comparative Genomic Hybridization (array-CGH) revealed a de novo complex genomic rearrangement consisting of a 2p25 duplication and a 2q37 deletion: arr[hg19] 2p25.3p25.1(30,341-9,588,369)x3,2q37.2q37.3(235,744,424-243,041,305)x1. FISH analysis showed that the abnormal chromosome 2 mimicked the derivative of an inversion with the duplicated 2p region located distally at 2q. This is, to the best of our knowledge, the first case with distal 2p25 duplication and 2q37 deletion and pituitary malformation leading to GH deficiency.
authors: Biotechnology Research Laboratory, Fondazione IRCCS San Matteo, Pavia, Italy.
authors: Annalisa
authors: A
authors: Vetro
authors: Department of Internal Medicine and Therapeutics, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS San Matteo, Pavia, Italy.
authors: Sara
authors: S
authors: Pagani
authors: Department of Public Health and Paediatric Sciences, University of Torino, Torino, Italy.
authors: Margherita
authors: M
authors: Silengo
authors: Neuroradiology Unit, Istituto Giannina Gaslini, Genoa, Italy.
authors: Mariasavina
authors: M
authors: Severino
authors: Department of Pediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
authors: Elena
authors: E
authors: Bozzola
authors: Department of Internal Medicine and Therapeutics, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS San Matteo, Pavia, Italy.
authors: Cristina
authors: C
authors: Meazza
authors: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors: Orsetta
authors: O
authors: Zuffardi
authors: Department of Internal Medicine and Therapeutics, Pediatric and Adolescent Unit, University of Pavia, Fondazione IRCCS San Matteo, Pavia, Italy.|Internal Medicine and Therapeutics Department, University of Pavia, Fondazione IRCCS San Matteo, Piazzale Golgi 2, 27100 Pavia, Italy.
authors: Mauro
authors: M
authors: Bozzola
keywords: 2p duplication; 2q deletion; Growth hormone deficiency; Pituitary hypoplasia