Aneuploidy

Aneuploidy is a condition in which cells contain an abnormal number of individual chromosomes, making it distinct from changes involving entire chromosome sets. It usually arises when chromosomes fail to separate correctly during meiosis or mitosis, a process called nondisjunction, or when a chromosome is lost through anaphase lag. Aneuploidy can disrupt gene dosage, alter cell function, and contribute to developmental disorders, infertility, and tumor progression. In biology, researchers identify aneuploid cells through karyotyping, fluorescence-based methods, or genomic sequencing to study chromosome segregation, diagnose chromosomal conditions, and understand how genome imbalance influences disease and evolution.

Aneuploidy - Related Videos

Research

JoVE Journal - Genetics

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

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Cited by 2 •

2019

Here, we introduce a semiconductor sequencing method for preimplantation genetic testing for aneuploidy (PGT-A) with the advantages of short turnaround time, low cost, and high throughput.

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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Cited by 3 •

2022

The protocol presents the overall in-lab procedures required in pre-implantation genetic testing for aneuploidy on a semiconductor-based next-generation sequencing platform. Here we present the detailed steps of whole genome amplification, DNA fragment selection, library construction, template preparation, and sequencing working flow with representative results.

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...

Meiotic Spindle Assessment in Mouse Oocytes by siRNA-mediated Silencing

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Cited by 10 •

2015

Here, we present a protocol for specific siRNA-mediated mRNA depletion followed by immunofluorescence analysis to evaluate meiotic spindle assembly and organization in mouse oocytes. This protocol is suitable for in vitro depletion of transcripts and functional assessment of different spindle and/or MTOC-associated factors in oocytes.

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