New heart defects data have been reported by B. Gargouri and co-authors
2009 JUL 13 - (NewsRx.com) -- According to recent research published in the journal Labmedicine, "Conotruncal heart defects are cardiovascular malformations that have most been associated with chromosomal 22q11.2 microdeletion. To estimate frequency and investigate the clinical features of these microdeletions in unselected patients with conotruncal heart defects, a total of 26 patients originating from southern Tunisia had been prospectively evaluated through cytogenetic and molecular studies." "The clinical analysis was performed according to a specific clinical protocol for the diagnosis of congenital cardiovascular malformations. A molecular cytogenetic technique was undertaken by fluorescence in situ hybridization (FISH) using 2 probes: LSI DiGeorge N25 (D22S75) region probe N25/ARSA, and LSI DiGeorge/VCFS region probe TUPLE1/ARSA. cytogenetic analysis with RHG banding was carried out to detect chromosome rearrangements. All patients have normal karyotype 46,XX or 46,XY. The frequency of the 22q11.2 microdeletion in the subjects carrying conotruncal heart defects with or without extracardiac signs of our series is thus estimated at 3.85% (1/26)," wrote B. Gargouri and colleagues. The researchers concluded: "The microdeleted subject is carrying a tetralogy of Fallot." Gargouri and colleagues published their study in Labmedicine (Screening for Cytogenetic and Molecular Chromosome Rearrangements in Tunisian Children With Conotruncal Heart Defects. Labmedicine, 2009;40(6):357-361). For additional information, contact B. Gargouri, Medical University Sfax, Dept. of Histol, Sfax, Tunisia. The publisher's contact information for the journal Labmedicine is: American Society Clinical Pathology, 2100 W Harrison St., Chicago, IL 60612, USA. Keywords: Tunisia, Sfax, Cardiology, Cardiovascular, Heart Defects. This article was prepared by Cardiovascular Week editors from staff and other reports. Copyright 2009, Cardiovascular Week via NewsRx.com.
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