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