Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… typically focus only on Down syndrome and other common trisomies. A trisomy is a condition in which there are three … most frequently in both study cohorts, followed by trisomies 15, 16 and 22. Pregnancy and other outcome data were available for 52 of the 60 cases of rare trisomies found in the Australian cohort. Notably, …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… or whether parents who choose to have children with trisomies will face future discrimination . The Nuffield …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
​
… fetuses with normal chromosomes, and fetuses with trisomies 21 or 18, Turner syndrome (45, X), Fragile X, twin … SL, Vavrek D, Seltzer WK, Bianchi DW. Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, … amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21. Hum Genet, 131(11):1751-9. 2012. [ …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.