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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Editorial Board Member: Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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IMPACT FACTOR 2013: 2.955
Rank 5 out of 29 in category Medical Laboratory Technology in the 2013 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR): 0.860
Source Normalized Impact per Paper (SNIP): 1.046



Molecular Characterization of Chromosome 22 Deletions by Short Tandem Repeat Polymorphism (STRP) in Patients with Conotruncal Heart Defects

Simona Vittorini / Monica Sacchelli / Maria R. Iascone / Anita Collavoli / Simona Storti / Andrea Giusti / Giovanna Andreani / Nicoletta Botto / Andrea Biagini / Aldo Clerico

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 39, Issue 12, Pages 1249–1258, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2001.201, June 2005

Publication History

Published Online:


The haploinsufficiency of chromosome 22q11.2 can cause both DiGeorge and velocardiofacial syndromes, both of which are characterized by conotruncal heart defects as well as a wide range of other extracardiac anomalies. Several studies have demonstrated that approximately 10–20% of patients with conotruncal heart defects have a 22q11.2 deletion.

In clinical laboratories, the deletion is usually detected by fluorescent in situ hybridization (FISH). We set up a polymerase chain reaction-based non-radioactive method for molecular analysis of the 22q11.2 region in conotruncal cardiac patients with conotruncal defects.

Sixty-four children with conotruncal defects and their parents were genotyped by polymerase chain reaction, using fifteen polymorphic markers. We identified nine deletions (confirmed by FISH): eight were “de novo” and one familial, maternally inherited. Six deletions were of paternal and three of maternal origin. There were seven deletions of 3 Mb and the other two were of 1.5 Mb.

This method is a cost-effective means of characterizing the 22q11.2 region and it can be applied for a rapid screening of 22q11.2 deletion in patients at risk. In agreement with previously published data, we found no correlation between the sizes and the parental origin of deletions and cardiac or extra-cardiac phenotypes.

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