Trisomy

Trisomy is a chromosomal condition in which cells contain three copies of a particular chromosome rather than the usual two, making it an important subject in genetics and biology. It most often arises through nondisjunction, a failure of chromosome pairs or sister chromatids to separate correctly during meiosis, producing a gamete with an extra chromosome; fertilization can then create a trisomic embryo. The biological effects depend on which chromosome is involved and can influence development, anatomy, and health, as seen in trisomy 21, trisomy 18, and trisomy 13. Studying trisomy supports chromosome analysis, prenatal screening, genetic counseling, and research into human development and aneuploidy.

Trisomy - Related Videos

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...

Research

JoVE Journal - Medicine
Free Sample

FISH for Pre-implantation Genetic Diagnosis

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Cited by 17 •

2011

This article describes the selection of suitable probes for single-cell FISH, spreading techniques for blastomere nuclei, and in situ hybridization and signal scoring, applied to pre-implantation genetic diagnosis (PGD) in a clinical setting.

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