Rare copy number variants in patients with congenital conotruncal 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 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...
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 کاملRare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia
BACKGROUND Ongoing studies using genomic microarrays and next-generation sequencing have demonstrated that the genetic contributions to cardiovascular diseases have been significantly ignored in the past. The aim of this study was to identify rare copy number variants in individuals with congenital pulmonary atresia (PA). METHODS AND RESULTS Based on the hypothesis that rare structural varian...
متن کاملRare variants in NR2F2 cause congenital heart defects in humans.
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five...
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ژورنال
عنوان ژورنال: Birth Defects Research
سال: 2017
ISSN: 2472-1727
DOI: 10.1002/bdra.23609