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Related Concept Videos

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%...
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,...

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Related Experiment Video

Updated: Jun 12, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

Identification of chromosomal abnormalities in miscarriages using single-nucleotide polymorphism arrays.

Wantong Zhao1, Haiwei Wang2, Bin Liang1

  • 1Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Fujian Medical University, Fuzhou, 350001, Fujian, China.

Archives of Gynecology and Obstetrics
|June 10, 2026
PubMed
Summary

Chromosomal abnormalities, particularly trisomy and monosomy X, are frequent causes of miscarriage. High-throughput SNP array analysis identified these in over 59% of cases, though nearly 40% had no detected variants.

Keywords:
Chromosomal abnormalityMiscarriagePathogenic copy number variationSNP arrayTrisomy

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Area of Science:

  • Reproductive genetics
  • Human genetics
  • Genomic medicine

Background:

  • Chromosome abnormalities are a significant factor contributing to miscarriage.
  • Understanding the genetic basis of miscarriage is crucial for reproductive health.
  • High-throughput technologies offer advanced methods for chromosomal analysis.

Purpose of the Study:

  • To conduct a detailed chromosomal study of miscarriages using high-throughput technologies.
  • To identify the types and frequencies of chromosomal abnormalities in a cohort of miscarriages.
  • To investigate the role of various chromosomal aberrations in pregnancy loss.

Main Methods:

  • Analysis of 564 miscarriages using high-throughput single-nucleotide polymorphism (SNP) array.
  • Detection of chromosomal abnormalities including triploidy, trisomy, monosomy, uniparental disomy, and deletions/duplications.
  • Categorization of variants into pathogenic, variations of unknown significance (VOUS), and no clinically relevant variants.

Main Results:

  • Chromosomal abnormalities were detected in 336 (59.6%) of the 564 miscarriages.
  • Pathogenic variants were identified in 325 (57.6%) cases, with trisomy (225 cases) and monosomy X (39 cases) being most common.
  • Partial chromosomal deletions/duplications were found in 32 miscarriages, while 228 (40.4%) showed no clinically relevant chromosomal variants.

Conclusions:

  • Trisomy and monosomy X are confirmed as leading causes of miscarriage.
  • Chromosomal deletions and duplications also contribute to miscarriage.
  • The significant proportion of miscarriages with no detected variants suggests the involvement of other genetic factors, potentially single gene mutations requiring further investigation via high-throughput sequencing.