Copy Number Variation in Congenital Heart Defects
نویسندگان
چکیده
منابع مشابه
A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects.
A 30‐year‐old woman, gravida 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 ...
متن کاملDifferences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects.
Studies addressing the role of somatic copy number variation (CNV) in the genesis of congenital heart defects (CHDs) are scarce, as cardiac tissue is difficult to obtain, especially in non-affected individuals. We explored the occurrence of copy number differences in monozygotic (MZ) twins discordant for the presence of a CHD, as an illustrative model for chromosomal mosaicism in CHDs. Array co...
متن کاملBIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer
Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملAnalysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: (1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, b...
متن کاملInvestigation of Copy Number Variation in Children with Conotruncal Heart Defects
BACKGROUND Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. OBJECTIVES Investigate gene copy number variation (CNV) in children with conotruncal heart defect. METHODS Multiplex li...
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ژورنال
عنوان ژورنال: Current Genetic Medicine Reports
سال: 2014
ISSN: 2167-4876
DOI: 10.1007/s40142-014-0049-3