The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences | Zendy

Karina Cesaityte | Zendy; Danielius Serapinas | Zendy

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The 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 , family medicine , genetics , biology , linguistics , philosophy , fishery , gene

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

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