Author/Editor		Bratina, P; Faganel-Kotnik, B; Bratanič, B; Novosel-Sever, M
Title		Sindrom Di George
Translated title		Di George syndrome
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 13, št. 4
Publication year		2006
Volume		str. 217-22
Language		slo
Abstract		We describe a case of a newborn with DiGeorge Syndrome, classically defined as a congenital T-cell immunodeficiency, which is characterised by conotruncal cardiac anomalies, unusual facies, hypoplastic thymus and hypocalcaemic tetany. Many, but not all, patients with DiGeorge Syndrome have a heterozygous deletion of chromosome 22, which is one of the most common chromosomal abnormalities known.
Summary		Opisan je primer novorojenčka z DiGeorge sindromom, ki je klasično opredeljen kot kongenitalna T celična imunodeficienca, za katero so značilne konotrunkalne anomalije srca, tipične obrazne poteze, hipoplastični priželjc in hipokalcemična tetanija. Večina pacientov z DiGeorge sindromom ima heterozigotno delecijo na kromosomu št. 22, ki je ena najpogostejših znanih kromosomskih anomalij.
Descriptors		DIGEORGE SYNDROME INFANT, NEWBORN