The spectrum of microdeletian syndromes at the hospital of Lithuanian university of health sciences
Keyword(s):
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.
1999 ◽
Vol 85
(4)
◽
pp. 424-425
◽
1996 ◽
Vol 66
(4)
◽
pp. 403-412
◽
2014 ◽
Vol 27
(1)
◽
pp. 41-46
◽
2008 ◽
Vol 73
(2)
◽
pp. 142-147
◽