Ventricular septal defect associated with microdeletions of chromosome 22q11.2

Citation
H. Yamagishi et al., Ventricular septal defect associated with microdeletions of chromosome 22q11.2, CLIN GENET, 58(6), 2000, pp. 493-496
Citations number
25
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
0009-9163 → ACNP
Volume
58
Issue
6
Year of publication
2000
Pages
493 - 496
Database
ISI
SICI code
0009-9163(200012)58:6<493:VSDAWM>2.0.ZU;2-V
Abstract
Microdeletions of chromosome 22q11.2 (de1.22q11) cause DiGeorge syndrome, v elo-cardio-facial syndrome, and conotruncal anomaly face syndrome, which ar e commonly associated with conotruncal heart anomalies. Approximately 15% o f the patients manifest ventricular septal defect (VSD), and the conal-sept al type of VSD has been proposed to be associated with de1.22q11, since it is categorized as a conotruncal anomaly. However, the types of VSD associat ed with de1.22qll remain poorly studied. The purpose of this study is to as sess whether conal-septal VSD or other types of VSDs are associated with de 1.22qll. We analyzed the chromosomes of 22 consecutive patients with conal- septal VSD, prospectively, and evaluated the types of VSD observed in 3 pat ients with de1.22q11, retrospectively. De1.22q11 was not detected in any of the 22 patients with conal-septal VSD. All the VSDs observed in the 3 pati ents with de1.22q11 were a perimembranous type of VSD, which is not a conot runcal anomaly. Our results suggest that perimembranous VSD can be associat ed with de1.22q11, but de1.22q11 is not a common cause of conal-septal VSD.