Header

UZH-Logo

Maintenance Infos

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin


Fokstuen, S; Arbenz, U; Artan, S; Dutly, Fabrizio; Bauersfeld, U; Brecevic, L; Fasnacht, M; Röthlisberger, Benno; Schinzel, Albert (1998). 22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin. Clinical Genetics, 53(1):63-69.

Abstract

Previous studies have indicated a wide spectrum of incidences of 22q11.2 deletions in isolated and syndromic (sporadic or familial) cases of conotruncal heart defects, whereby the detection rate of the deletion varied from 65% in one study to 0 in another. We analysed 110 patients with non-selective syndromic or isolated non-familial congenital heart malformations by fluorescence in situ hybridization (FISH) using the D22S75 DiGeorge chromosome (DGS) region probe. A 22q11.2 microdeletion has been detected in 9/51 (17.6%) syndromic patients. Five were of maternal origin and four of paternal origin. None of the 59 patients with isolated congenital cardiac defect had a 22q11.2 deletion. We compared the cardiac anomalies of our patients with a 22q11.2 deletion with those of previously published series and we describe types of congenital heart defects which appear to be often associated with a 22q11.2 deletion. The ability to detect such types of heart defects and to provide an early diagnosis of 22q11.2 deletion is particularly relevant in very young infants, who often show only very mild expression of the otherwise well-characterized phenotypes of the DiGe-orge/velo-cardio-facial syndrome (DG/VCFS).

Abstract

Previous studies have indicated a wide spectrum of incidences of 22q11.2 deletions in isolated and syndromic (sporadic or familial) cases of conotruncal heart defects, whereby the detection rate of the deletion varied from 65% in one study to 0 in another. We analysed 110 patients with non-selective syndromic or isolated non-familial congenital heart malformations by fluorescence in situ hybridization (FISH) using the D22S75 DiGeorge chromosome (DGS) region probe. A 22q11.2 microdeletion has been detected in 9/51 (17.6%) syndromic patients. Five were of maternal origin and four of paternal origin. None of the 59 patients with isolated congenital cardiac defect had a 22q11.2 deletion. We compared the cardiac anomalies of our patients with a 22q11.2 deletion with those of previously published series and we describe types of congenital heart defects which appear to be often associated with a 22q11.2 deletion. The ability to detect such types of heart defects and to provide an early diagnosis of 22q11.2 deletion is particularly relevant in very young infants, who often show only very mild expression of the otherwise well-characterized phenotypes of the DiGe-orge/velo-cardio-facial syndrome (DG/VCFS).

Statistics

Citations

Dimensions.ai Metrics
60 citations in Web of Science®
72 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 20 Jan 2023
0 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, congenital heart defects, conotruncal anomaly face syndrome, DiGeorge syndrome, microdeletion 22q11.2, parental origin, velo-cardiofacial syndrome
Language:English
Date:1998
Deposited On:20 Jan 2023 13:02
Last Modified:28 Apr 2024 01:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0009-9163
OA Status:Closed
Publisher DOI:https://doi.org/10.1111/j.1399-0004.1998.tb02584.x