Research Topic · Peer-Reviewed

Down Syndrome

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21, a situation known as trisomy 21. This additional genetic material alters the course of development and gives rise to a recognizable pattern of physical features along with effects on growth and cognitive development. Indiv…

Curated from this journal's research 📚 9 peer-reviewed articles cited Cited 37× across the literature 🗓 Reviewed August 2026

Overview

Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21, a situation known as trisomy 21. This additional genetic material alters the course of development and gives rise to a recognizable pattern of physical features along with effects on growth and cognitive development. Individuals with Down syndrome commonly have some degree of intellectual disability, characteristic facial and physical characteristics, and an increased likelihood of certain health conditions, such as heart defects and sleep-related breathing problems. Outcomes vary widely from person to person, and early intervention, education, and medical care can support development and quality of life. Research relevant to this topic includes studies on health conditions associated with Down syndrome, such as a meta-analytic review of obstructive sleep apnea in individuals with Down syndrome and an examination of sexual functioning among adolescents with the condition. As a topic within the study of Chromosomes, Down syndrome connects the consequences of a specific chromosomal change with their developmental, medical, and behavioral implications. This page gathers peer-reviewed, open-access research relevant to Down syndrome and the broader study of Chromosomes and genetics.

Research published in this journal

9 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 9 articles above have been cited 37 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Down Syndrome, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Chromosomes.

Journal editorial board
Alessandra Iannuzzi · Italy Ciro Gabriele Mainolfi · Italy Daniela Ribeiro Ney Garcia · Brazil

This page summarises published research for orientation; it is not medical or professional advice.