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Screening of patients at risk for 22q11.2 deletion (CROSBI ID 137660)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

Barišić, Ingeborg ; Morožin Pohovski, Leona ; Petković, Iskra ; Cvetko, Željko ; Stipančić, Gordana ; Bagatin, Mario Screening of patients at risk for 22q11.2 deletion // Collegium antropologicum, 32 (2008), 1; 165-169

Podaci o odgovornosti

Barišić, Ingeborg ; Morožin Pohovski, Leona ; Petković, Iskra ; Cvetko, Željko ; Stipančić, Gordana ; Bagatin, Mario

engleski

Screening of patients at risk for 22q11.2 deletion

The aim of this study was to determine whether deletion 22q11.2 studies should become a part of a standardized diagnostic workup for selected groups of at risk patients.We prospectively investigated four cohorts of unselected patients referred because of:1)congenital heart defect (CHD), 2)palatal anomalies, 3)hypocalcemia, 4)dysmorphic features suggestive of del22q11.2.Fluorescence in situ hybridization analysis revealed deletion 22q11.2 in 9.4% (6/64) patients with CHD.From 18 patients referred because of the hypocalcemia , six (33.3%) had 22q11.2 deletion.In the group of 31 children with dysmorphic traits, the diagnosis was confirmed in two (6.4%) patients.None of the 58 children with palatal anomalies showed evidence of 22q11.2 deletion.Conclusions: Testing for the 22q11.2 microdeletion can be recommended in all patients with conotruncal heart defects and in patients with hypocalcemia.It should be also considered in patients presenting only with dysmorphic traits suggestive of del 22q11.2, while screening in patients with cleft palate is not warranted

chromosome 22q11.2 deletion; heart malformation; cleft lip; cleft palate; hypocalcemia

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Podaci o izdanju

32 (1)

2008.

165-169

objavljeno

0350-6134

Povezanost rada

Kliničke medicinske znanosti

Indeksiranost