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

Optical genome mapping could change the existing workflow within cytogenetic laboratories

Optical genome mapping could change the existing workflow within cytogenetic laboratories

IU School of Medicine wins $30 million NIA funding to study Alzheimer’s disease and related dementias

IU School of Medicine wins $30 million NIA funding to study Alzheimer’s disease and related dementias

Study reveals risk factors associated with COVID-19 outcomes for people with IDD

Study reveals risk factors associated with COVID-19 outcomes for people with IDD

A single blood-based biomarker can help indicate underlying neurodegeneration

A single blood-based biomarker can help indicate underlying neurodegeneration

In California, nursing home owners can operate after they’re denied a license

In California, nursing home owners can operate after they’re denied a license

High seroprevalence in Peruvian population recovering from SARS-CoV-2 infection

High seroprevalence in Peruvian population recovering from SARS-CoV-2 infection

How schools can help kids heal after the pandemic’s uncertainty

How schools can help kids heal after the pandemic’s uncertainty

High-powered MRI detects subtle differences in the hippocampus of people with Down syndrome

High-powered MRI detects subtle differences in the hippocampus of people with Down syndrome

New tool helps measure communication development in youth with Down syndrome

New tool helps measure communication development in youth with Down syndrome

Study shows stronger link between Down syndrome and acute myeloid leukemia

Study shows stronger link between Down syndrome and acute myeloid leukemia

Families with sick kids on Medicaid seek easier access to out-of-state hospitals

Families with sick kids on Medicaid seek easier access to out-of-state hospitals

Metabolic dysfunction found in mouse models of neurodevelopmental disorders

Metabolic dysfunction found in mouse models of neurodevelopmental disorders

Study reveals reason behind high risk of leukemia in children with Down syndrome

Study reveals reason behind high risk of leukemia in children with Down syndrome

Sargramostim drug can also improve memory in people with mild-to-moderate Alzheimer's disease

Sargramostim drug can also improve memory in people with mild-to-moderate Alzheimer's disease

Study investigates the prevalence of eye disease in adults with Down syndrome

Study investigates the prevalence of eye disease in adults with Down syndrome

Human cerebral organoid model to screen drugs for treatment of Creutzfeldt-Jakob disease

Human cerebral organoid model to screen drugs for treatment of Creutzfeldt-Jakob disease

Push is on for states to ban organ transplant discrimination

Push is on for states to ban organ transplant discrimination

Study shows potential benefits of green tea extracts in Down syndrome

Study shows potential benefits of green tea extracts in Down syndrome

Adults with Down syndrome more likely to die from COVID-19 than general population

Adults with Down syndrome more likely to die from COVID-19 than general population

New partnership launches Down syndrome research biobank

New partnership launches Down syndrome research biobank