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

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Researchers shed light on the genetics behind facial changes in Down syndrome

Researchers shed light on the genetics behind facial changes in Down syndrome

An extra gene causes excessive inhibitory connections in the neocortex of Down syndrome mouse models

An extra gene causes excessive inhibitory connections in the neocortex of Down syndrome mouse models

COVID-19's hidden toll: Study reveals greater mortality disparities for people with intellectual disabilities

COVID-19's hidden toll: Study reveals greater mortality disparities for people with intellectual disabilities

People with Down syndrome are living longer, but the health system still treats many as kids

People with Down syndrome are living longer, but the health system still treats many as kids

An extremely rare case report of rebound multi-system inflammatory syndrome in children

An extremely rare case report of rebound multi-system inflammatory syndrome in children

Key memory receptor is localized to interneurons

Key memory receptor is localized to interneurons

Researchers discover and characterize a novel protein involved in tumor suppression mechanism

Researchers discover and characterize a novel protein involved in tumor suppression mechanism

New genetic animal model may inform potential therapeutic options for Down syndrome

New genetic animal model may inform potential therapeutic options for Down syndrome

Scientists identify the cause of leukemia in people with trisomy 21

Scientists identify the cause of leukemia in people with trisomy 21

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Detection and targeting of splicing deregulation reveal a potential strategy for pAML therapy

Novel predictors of severe respiratory syncytial virus infections among infants below the age of one

Novel predictors of severe respiratory syncytial virus infections among infants below the age of one

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Brain over-activation could be causing seizures and social deficits in genetic subtype of autism

Scientists identify mechanisms underlying autoimmunity in Down syndrome

Scientists identify mechanisms underlying autoimmunity in Down syndrome

Scientists illuminate the mechanisms that prevent p53 activation from triggering cancer cell death

Scientists illuminate the mechanisms that prevent p53 activation from triggering cancer cell death

CHLA launches first clinical trial for Down syndrome regression disorder with $5.3 million NIH grant

CHLA launches first clinical trial for Down syndrome regression disorder with $5.3 million NIH grant

What is the association between acute lymphoblastic leukemia and congenital cytomegalovirus infection?

What is the association between acute lymphoblastic leukemia and congenital cytomegalovirus infection?

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

ACMG's new guideline strongly recommends the use of noninvasive prenatal screening for fetal chromosome abnormalities

Study finds altered spontaneous brain activity in people with Down syndrome

Study finds altered spontaneous brain activity in people with Down syndrome

What Germany’s coal miners can teach America about medical debt

What Germany’s coal miners can teach America about medical debt