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.
- Microdeletion syndrome
- Fluorescence in situ hybridization (FISH)
Česnaitytė, K., & Serapinas, D. (2016). The spectrum of microdeletian syndromes at the hospital of Lithuanian University of Health Sciences. Genetika, 48(3), 859-866. https://doi.org/10.2298/GENSR1603859C