Open AccessThe spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences
Author(s) -
Karina Cesaityte,
Danielius Serapinas
Publication year - 2016
Publication title -
genetika
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.24
H-Index - 15
eISSN - 1820-6069
pISSN - 0534-0012
DOI - 10.2298/gensr1603859c
Subject(s) - angelman syndrome , lithuanian , fish <actinopterygii> , pediatrics , medicine , university hospital , fluorescence in situ hybridization , family medicine , biology , genetics , linguistics , philosophy , fishery , gene , chromosome
Microdeletion syndrome is a rare condition which can be diagnosed by fluorescent in situ hybridization (FISH) method. We analyzed microdeletion syndromes cases during ten years period (2005-2015) at The Hospital of Lithuanian University of Health Sciences. We report 2 patients with Prader-Willi syndrome, 2 patients with Smith-Magenis syndrome, 1 patient with Angelman syndrome and 1 patient with Cri du Chat syndrome. All syndromes were confirmed by FISH. These cases contain mainly data about phenotype abnormalities and clinical symptoms