Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare

International Journal of Cardiology
Lihong JiangKenneth K Wu

Abstract

It is well known that a deletion within chromosome 22q11.2 has been identified in most cases of congenital heart disease (CHD) with DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). Whether the 22q11.2 deletion is associated with isolated CHD is controversial. Our data is consistent with previous publications which show that the 22q11.2 deletion is associated with isolated CHD even though it is rare.

References

Jan 1, 1996·Archives of Disease in Childhood·A H TrainerJ Tolmie
Jul 1, 1996·European Journal of Pediatrics·M C DigilioB Dallapiccola
Jan 1, 1997·Archives of Disease in Childhood·M C DigilioB Dallapiccola
Aug 26, 1998·Journal of the American College of Cardiology·E GoldmuntzD A Driscoll
Jun 23, 2001·Journal of the American College of Cardiology·D B McElhinneyE Goldmuntz
Oct 26, 2005·International Journal of Cardiology·Lihong JiangKenneth K Wu
Mar 3, 2007·International Journal of Cardiology·M Cristina DigilioBruno Dallapiccola
Dec 3, 2008·International Journal of Cardiology·Andrew J S Coats

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Citations

Oct 23, 2010·European Journal of Medical Genetics·Peter AgergaardCharlotte Olesen

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