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22q11.2 deletions in a series of patients with non‐selective congenital heart defects: incidence, type of defects and parental origin
Author(s) -
Fokstuen S.,
Arbenz U.,
Artan S.,
Dutly F.,
Bauersfeld U.,
Brecevic L.,
Fasnacht M.,
Röthlisberger B.,
Schinzel A.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02584.x
Subject(s) - digeorge syndrome , heart defect , fluorescence in situ hybridization , in situ hybridization , genetics , chromosome , phenotype , biology , incidence (geometry) , heart disease , medicine , gene , gene expression , physics , optics
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).