Jump to ContentJump to Main Navigation
Show Summary Details
In This Section

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

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

12 Issues per year


IMPACT FACTOR 2016: 3.432

CiteScore 2016: 2.21

SCImago Journal Rank (SJR) 2015: 0.873
Source Normalized Impact per Paper (SNIP) 2015: 0.982

Online
ISSN
1437-4331
See all formats and pricing
In This Section
Volume 39, Issue 12 (Dec 2001)

Issues

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
Published Online: 2005-06-01 | DOI: https://doi.org/10.1515/CCLM.2001.201

Abstract

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.

About the article

Published Online: 2005-06-01

Published in Print: 2001-12-07



Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2001.201. Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Lihong Jiang, Changqing Duan, Baowen Chen, Zongliu Hou, Zhiyi Chen, Yaxiong Li, Youming Huan, and Kenneth K. Wu
International Journal of Cardiology, 2005, Volume 105, Number 2, Page 216
[2]
Cheng-Liang Lee, Kai-Sheng Hsieh, Yi-Ling Chen, and Yow-Ling Shiue
Revista Española de Cardiología (English Edition), 2009, Volume 62, Number 3, Page 263
[3]
Peter Agergaard, Charlotte Olesen, John Rosendahl Østergaard, Michael Christiansen, and Karina Meden Sørensen
American Journal of Medical Genetics Part A, 2012, Volume 158A, Number 3, Page 498
[4]
Cheng-Liang Lee, Kai-Sheng Hsieh, Yi-Ling Chen, and Yow-Ling Shiue
Revista Española de Cardiología, 2009, Volume 62, Number 3, Page 263
[5]
Carrie L. Heike, Jacqueline R. Starr, Mark J. Rieder, Michael L. Cunningham, Karen L. Edwards, Ian B. Stanway, and Dana C. Crawford
Birth Defects Research Part A: Clinical and Molecular Teratology, 2009, Page NA
[6]
Elena Michaelovsky, Doron Gothelf, Michael Korostishevsky, Amos Frisch, Merav Burg, Miri Carmel, Tamar Steinberg, Dov Inbar, Alan Apter, and Abraham Weizman
The International Journal of Neuropsychopharmacology, 2008, Volume 11, Number 03
[7]
Rosanna Weksberg, Andrea C. Stachon, Jeremy A. Squire, Laura Moldovan, Jane Bayani, Stephen Meyn, Eva Chow, and Anne S. Bassett
Human Genetics, 2007, Volume 120, Number 6, Page 837
[8]
N Simon Thomas, Miranda Durkie, Gemma Potts, Richard Sandford, Berendine Van Zyl, Sheila Youings, Nicholas R Dennis, and Patricia A Jacobs
European Journal of Human Genetics, 2006, Volume 14, Number 7, Page 831
[9]
Ganesh Dakhale, Suchet Khanzode, Shruti Khanzode, Anand Saoji, Linesh Khobragade, and Avinash Turankar
Neuropsychobiology, 2004, Volume 49, Number 4, Page 205

Comments (0)

Please log in or register to comment.
Log in