Cytogenetic and molecular study over the period of 13 years in patients with contigous gene syndromes. (CROSBI ID 551156)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | domaća recenzija
Podaci o odgovornosti
Lasan Trčić, R ; Kušpilić, M ; Crkvenac Gornik, K ; Letica, Lj ; Tonković Đurišević, I ; Mužinić, D ; Huljev, S ; Begović, D
engleski
Cytogenetic and molecular study over the period of 13 years in patients with contigous gene syndromes.
418 patients with contiguous gene syndromes have been investigated with high resolution chromosome analysis, FISH, and recently molecular methodes in the 1996-2009 period. Among 199 patients and families suspected of having DiGeorge or velocardiofacial syndrome 36 had microdeletion 22q11.2 (one with karyotype 47, XXY).
FISH; DiGeorge
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Podaci o prilogu
2009.
objavljeno
Podaci o matičnoj publikaciji
Podaci o skupu
Balkanski kongres humane genetike
poster
14.05.2009-17.05.2009
Cavtat, Hrvatska
