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Collegium antropologicum, Vol.32 No.1 May 2008. -

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 hypocalcaemia, 4 dysmorphic features suggestive

of del 22q11.2. Fluorescence in situ hybridization analysis revealed deletion 22q11.2 in 9.4% 6-64 patients with

CHD. From 18 patients referred because of the hypocalcaemia, 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 hypocalcaemia. 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; hypocalcaemia



Autor: Ingeborg Barišić - Leona Morožin Pohovski - Iskra Petković - Željko Cvetko - Gordana Stipančić - Marijo Bagatin -

Fuente: http://hrcak.srce.hr/



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