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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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 sister...

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Related Experiment Video

Updated: Jun 20, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Genomic changes detected by array CGH in human embryos with developmental defects.

E Rajcan-Separovic1, Y Qiao, C Tyson

  • 1Department of Pathology and Laboratory Medicine, University of British Columbia (UBC), Vancouver, BC, Canada, V5Z 4H4. eseparovic@cw.bc.ca

Molecular Human Reproduction
|September 26, 2009
PubMed
Summary
This summary is machine-generated.

Submicroscopic chromosomal changes, or copy number variants (CNVs), were identified in 29% of euploid embryonic miscarriages. These unique CNVs, some de novo, may explain developmental defects in chromosomally normal embryos.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

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Last Updated: Jun 20, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
16:37

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

Area of Science:

  • Human Embryology
  • Genetics
  • Reproductive Medicine

Background:

  • Embryoscopic and genetic evaluations reveal developmental abnormalities in most miscarriages, including euploid ones.
  • Similar morphological changes in euploid and non-euploid embryos suggest undetected lethal genetic factors in chromosomally normal miscarriages.

Purpose of the Study:

  • To investigate submicroscopic chromosomal changes (copy number variants or CNVs) in euploid embryonic miscarriages.
  • To identify novel CNVs and determine their origin (de novo or inherited) in chromosomally normal embryos with developmental defects.

Main Methods:

  • Whole genome array comparative genome hybridization (CGH) was employed to screen for submicroscopic chromosomal changes.
  • High-resolution custom arrays were used to refine the breakpoints of identified CNVs.
  • Parental array CGH analysis was performed to ascertain the origin of detected CNVs.

Main Results:

  • Six unique CNVs, all smaller than 250 kb, were identified in 5 out of 17 (29%) euploid miscarriages.
  • One de novo CNV (13q32.1) and one suspected de novo CNV (10p15.3) were detected.
  • Three CNVs were inherited, and one was of unknown origin, highlighting the role of unique CNVs in embryonic development.

Conclusions:

  • This study reports the first identification of de novo and inherited unique CNVs in euploid human embryos with specific developmental defects.
  • Submicroscopic CNVs represent a significant cause of developmental abnormalities and miscarriage in chromosomally normal embryos.
  • Further research into these unique CNVs is crucial for understanding early human development and miscarriage.