A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects
摘要:
Congenital heart defect (CHD) is the most common fetal defects.Copy number 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 11.22.
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作者单位:
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China
[1]
期刊:
《中华医学杂志(英文版)》2015年128卷20期 2829-2830页
SCIMEDLINEISTICCSCDBP
关键词:
Congenital Heart DefectsCopy Number VariationsChromosomal DuplicationPrenatal Ultrasonic Diagnosis
栏目名称:
Clinical Practice
DOI:
10.4103/0366-6999.167369
发布时间:
2015-11-16
基金项目:
grants from the National Natural Science Foundation of China
Beijing Municipal Science and Technology Commission
Beijing Municipal Administration of Hospital Clinical Medicine Development of Special Foundation
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