相关实验视频

Updated: May 6, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
00:09

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.3K

自发堕胎的副本数变化:一个元分析

Gleb V Drozdov1, Anna A Kashevarova2, Igor N Lebedev2

  • 1Tomsk National Research Medical Center, Research Institute of Medical Genetics, Russian Academy of Sciences, Tomsk, Russia. gleb.drozdov@medgenetics.ru.

Journal of assisted reproduction and genetics
|February 28, 2025
PubMed
概括

在euploid自发流产中分析了副本数变异 (CNVs). 在22q11.2区域的删除被确定为早期胚胎死亡的潜在原因.

关键词:
副本数量变化 (CNV) 的变化流产 流产 流产怀孕期间的流产.自发流产是一种自发的流产.

更多相关视频

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis12:32

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis

Published on: September 7, 2021

2.0K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

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

Published on: August 17, 2022

3.0K

相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.6K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.8K
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
4.5K