Trisomy 21

Trisomy 21 is a chromosomal condition in which cells contain three copies of chromosome 21 instead of the usual two, making it the genetic basis of Down syndrome. It most often results from nondisjunction, an error during meiosis that causes chromosome 21 to remain together when reproductive cells form; less commonly, mosaic or translocation forms occur. The additional genetic material influences development and can affect physical traits, cognition, and health in variable ways. Studying Trisomy 21 supports chromosome biology, prenatal diagnosis, genetic counseling, and research into how gene dosage shapes human development and disease risk.

Trisomy 21 - Related Videos

Research

JoVE Journal - Cancer Research
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Natural Killer (NK) and CAR-NK Cell Expansion Method using Membrane Bound-IL-21-Modified B Cell Line

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Cited by 7 •

2022

Here, we present a method to expand peripheral blood natural killer (PBNK), NK cells from liver tissues, and chimeric antigen receptor (CAR)-NK cells derived from peripheral blood mononuclear cells (PBMCs) or cord blood (CB). This protocol demonstrates the expansion of NK and CAR-NK cells using 221-mIL-21 feeder cells in addition to the optimized purity of expanded NK cells.

Research

JoVE Journal - Biology

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

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Cited by 15 •

2012

A novel fluorescence in situ hybridization (FISH) method that simultaneously examines both numerical and structural chromosome alterations, particularly the specific chromosomal translocations associated with leukemia and lymphoma, of all 24 human chromosomes on a single device in one hybridization, is described.

Education

JoVE Science Education - Advanced Biology

Cytogenetics

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2023

Cytogenetics is the field of study devoted to chromosomes, and involves the direct observation of a cell’s chromosomal number and structure, together known as its karyotype. Many chromosomal abnormalities are associated with disease. Each chromosome in a karyotype can be stained with a variety of dyes to give unique banding patterns. More recent techniques, including comparative genomic hybridization and fluorescence in situ hybridization (FISH), allow for detecting specific chromosomal...

Long-Term Imaging of Identified Neural Populations using Microprisms in Freely Moving and Head-Fixed Animals

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2024

When integrated with a head-plate and an optical design compatible with both single- and two-photon microscopes, the microprism lens presents a significant advantage in measuring neural responses in a vertical column under diverse conditions, including well-controlled experiments in head-fixed states or natural behavioral tasks in freely moving animals.

Low-Cost Alternative for Examining Social Preference in Zebrafish (Danio rerio) Using the 3-Chamber Open-Tank Free-Swim Task

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2026

Multi-chamber social preference tasks have been adapted from rodents to zebrafish, facilitating the study of social behavior in model organisms. This protocol validates a low-cost 3-chamber open-tank task using webcams and open-source software to measure zebrafish social preference, making it accessible to undergraduate research and teaching.

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