Down Syndrome

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (Trisomy 21) or in part (such as due to translocations). The effects of the extra copy vary greatly among people, depending on the extent of the extra copy, genetic history and pure chance. In 2007, the American College of Obstetricians and Gynecologists (ACOG) endorsed guidelines that offer risk assessment to all pregnancies for fetal chromosomal abnormalities, including Down syndrome. It is estimated that approximately 70%, or 2.8 million, women undergo Down syndrome screening in the United States each year.
What is Down Syndrome?

Down syndrome or Down's syndrome, is a congenital condition that usually causes some degree of learning disability and is typically characterized by certain physical features.

Read More

Overview

Feature Articles

Latest Down Syndrome News and Research

Research can bring new possibilities for earlier diagnosis, preventive treatment of dementia

Research can bring new possibilities for earlier diagnosis, preventive treatment of dementia

AI can help recognize individuals with congenital adrenal hyperplasia based on facial images

AI can help recognize individuals with congenital adrenal hyperplasia based on facial images

NIH awards grant totaling $19.5M for Down syndrome research project

NIH awards grant totaling $19.5M for Down syndrome research project

Happiness neurotransmitter serotonin plays role in evolutionary expansion of the neocortex

Happiness neurotransmitter serotonin plays role in evolutionary expansion of the neocortex

$109 million NIH grant awarded to expand Alzheimer's disease and Down syndrome research

$109 million NIH grant awarded to expand Alzheimer's disease and Down syndrome research

Excess genetic exchanges impede the segregation of chromosomes into eggs

Excess genetic exchanges impede the segregation of chromosomes into eggs

Study underscores value of Mass General’s online health tool about Down syndrome

Study underscores value of Mass General’s online health tool about Down syndrome

Fly brain structure governed by lineage-dependent repulsion mechanism between neurons

Fly brain structure governed by lineage-dependent repulsion mechanism between neurons

Specific gene impairment may also protect people with Down syndrome

Specific gene impairment may also protect people with Down syndrome

HIIT helps achieve critical health outcomes for individuals with Down syndrome

HIIT helps achieve critical health outcomes for individuals with Down syndrome

Newly discovered chemical compound shows potential to become treatment for brain disorders

Newly discovered chemical compound shows potential to become treatment for brain disorders

UMSOM researchers identify how certain gene mutations cause ALS

UMSOM researchers identify how certain gene mutations cause ALS

NIH-funded researchers to assess drugs prescribed to treat COVID-19 in children

NIH-funded researchers to assess drugs prescribed to treat COVID-19 in children

New studies provide insights into DNA crossovers in egg and sperm cells

New studies provide insights into DNA crossovers in egg and sperm cells

How COVID-19 affects people with Down Syndrome

How COVID-19 affects people with Down Syndrome

Study analyzes cancer diagnosis in children with birth defects

Study analyzes cancer diagnosis in children with birth defects

New therapeutic possibilities for treating intellectual disability in Down syndrome

New therapeutic possibilities for treating intellectual disability in Down syndrome

New mathematical model can help explain why so many pregnancies and IVF attempts fail

New mathematical model can help explain why so many pregnancies and IVF attempts fail

Why do so many pregnancies and in vitro fertilization attempts fail?

Why do so many pregnancies and in vitro fertilization attempts fail?

Modifiable risk factors could play important role in Alzheimer's disease, study finds

Modifiable risk factors could play important role in Alzheimer's disease, study finds