title: Isolated congenital heart disease is associated with the 22q11 deletion even though it is rare.
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.
authors.affiliation: Department of Cardiac Surgery, Yan'an Hospital of Kunming Medical College; Yan'an Hospital of Kunming City; Yunnan Cardiovascular Hospital, Kunming, Yunnan 650051, PR China. Electronic address: jianglihong2006@hotmail.com.
authors.forename: Lihong
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Research Laboratory Center, Yan'an Hospital of Kunming Medical College; Yan'an Hospital of Kunming City; Yunnan Cardiovescular Hospital, Kunming, Yunnan 650051, PR China.
authors.forename: Zongliu
authors.initials: Z
authors.lastname: Hou
authors.affiliation: Department of Ecology and Environmental Sciences, College of Life Sciences, Yunnan University, Kunming, Yunnan 650091, PR China.
authors.forename: Changqing
authors.initials: C
authors.lastname: Duan
authors.affiliation: Department of Ecology and Environmental Sciences, College of Life Sciences, Yunnan University, Kunming, Yunnan 650091, PR China.
authors.forename: Baowen
authors.initials: B
authors.lastname: Chen
authors.affiliation: Department of Cardiac Surgery, Yan'an Hospital of Kunming Medical College; Yan'an Hospital of Kunming City; Yunnan Cardiovascular Hospital, Kunming, Yunnan 650051, PR China.
authors.forename: Zhiyi
authors.initials: Z
authors.lastname: Chen
authors.affiliation: Department of Cardiac Surgery, Yan'an Hospital of Kunming Medical College; Yan'an Hospital of Kunming City; Yunnan Cardiovascular Hospital, Kunming, Yunnan 650051, PR China.
authors.forename: Yaxiong
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Pathology, Mount Sinai Medical School, New York, NY 10029, USA.
authors.forename: Youming
authors.initials: Y
authors.lastname: Huan
authors.affiliation: Department of Cardiovascular Disease, Merck and Co., Inc., Rahway, NJ 07065, USA.
authors.forename: Kenneth K
authors.initials: KK
authors.lastname: Wu
mesh_terms: D002872:Chromosome Deletion; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans