Add to ORKGCongenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic variation and/or environmental factors could contribute to the CHD risk. Here we report genomic variations that in concert with trisomy 21, determine the risk for CHD in DS. This case-control GWAS includes 187 DS with CHD (AVSD = 69, ASD = 53, VSD = 65) as cases, and 151 DS without CHD as controls. Chromosome 21–specific association studies revealed rs2832616 and rs1943950 as CHD risk alleles (adjusted genotypic P-values <0.05). These signals were confirmed in a replication cohort of 92 DS-CHD cases and 80 DS-without CHD (n...
Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of co...
Down syndrome (DS) is the most common chromosomal condition associated with mental retardation and i...
Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most freq...
Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies...
Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies...
This study aims to identify the genetic and epigenetic determinants of congenital heart defect (CHD)...
none13noAmong Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although tris...
Background—About half of people with Down syndrome (DS) exhibit some form of congenital heart diseas...
About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder hav...
Background: Congenital heart defects (CHDs) are present in about 40–60% of newborns with Down syndro...
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phe...
Down Syndrome (DS) is the most frequent form of intellectual disability (ID) of genetic origin, whos...
Human trisomy 21, the chromosomal basis of Down syndrome (DS), is the most common genetic cause of h...
The Centers for Disease Control and Prevention (CDC) estimates that about 6,000 babies are born with...
Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular sep...
Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of co...
Down syndrome (DS) is the most common chromosomal condition associated with mental retardation and i...
Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most freq...
Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies...
Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies...
This study aims to identify the genetic and epigenetic determinants of congenital heart defect (CHD)...
none13noAmong Down syndrome (DS) children, 40-50% have congenital heart disease (CHD). Although tris...
Background—About half of people with Down syndrome (DS) exhibit some form of congenital heart diseas...
About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder hav...
Background: Congenital heart defects (CHDs) are present in about 40–60% of newborns with Down syndro...
Down syndrome (DS), or trisomy 21, is a common disorder associated with several complex clinical phe...
Down Syndrome (DS) is the most frequent form of intellectual disability (ID) of genetic origin, whos...
Human trisomy 21, the chromosomal basis of Down syndrome (DS), is the most common genetic cause of h...
The Centers for Disease Control and Prevention (CDC) estimates that about 6,000 babies are born with...
Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular sep...
Down syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of co...
Down syndrome (DS) is the most common chromosomal condition associated with mental retardation and i...
Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most freq...