A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects  

作　　者：Juan Zhang Qing-Qing Wu Li Wang Li-Juan Sun 

机构地区：[1]Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China

出　　处：《Chinese Medical Journal》2015年第20期2829-2830,共2页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Natural Science Foundation of China （N o. 81071159）, Beijing Municipal Science and Technology Commission （No. Z 141107002514006） and Beijing Municipal Administration of Hospital Clinical Medicine Development of Special Foundation （No, XMLX201310）.

摘　　要：Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week＇s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus （male） exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus （male） revealed atrioventricular septal detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week＇s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus （male） exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus （male） revealed atrioventricular septal detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.

关 键 词：Congenital Heart Defects Copy Number Variations Chromosomal Duplication Prenatal Ultrasonic Diagnosis 

分 类 号：S831.5[农业科学—畜牧学] R541.1[农业科学—畜牧兽医]