Original scientific paper
Screening of Patients at Risk for 22q11 Deletion
Ingeborg Barišić
Leona Morožin Pohovski
Iskra Petković
Željko Cvetko
Gordana Stipančić
Marijo Bagatin
Abstract
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.
Keywords
chromosome 22q11.2 deletion; heart malformation; cleft lip; cleft palate; hypocalcaemia
Hrčak ID:
22832
URI
Publication date:
8.5.2008.
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