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Related Concept Videos

Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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%...
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
Cis-regulatory Sequences02:02

Cis-regulatory Sequences

Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

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Related Experiment Video

Updated: Jun 28, 2026

Chromosome Screening of Human Preimplantation Embryos by Using Spent Culture Medium: Sample Collection and Chromosomal Ploidy Analysis
12:32

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

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Constitutional DNA copy number changes in ICSI children.

G H Woldringh1, I M Janssen, J Y Hehir-Kwa

  • 1Department of Obstetrics and Gynecology (internal postal code 791), Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

Human Reproduction (Oxford, England)
|October 23, 2008
PubMed
Summary

Assisted reproductive techniques (ART) like intracytoplasmic sperm injection (ICSI) may increase de novo genomic copy number changes in children. Further research is needed to confirm these findings in larger populations.

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

Area of Science:

  • Genetics
  • Reproductive Biology
  • Developmental Biology

Background:

  • Assisted reproductive techniques (ART) have advanced fertility treatments for subfertile couples, including those with severe male factor infertility.
  • Concerns exist regarding the biological safety of ART, evidenced by a slight increase in congenital malformations in ART-conceived children.
  • Severe oligospermia and azoospermia are key indications for ART, necessitating safety evaluations.

Purpose of the Study:

  • To investigate the incidence of de novo genomic copy number changes in children conceived via intracytoplasmic sperm injection (ICSI).
  • To compare the frequency of these genetic alterations in ICSI children versus naturally conceived children.

Main Methods:

  • Utilized tiling-resolution BAC array-comparative genomic hybridization (aCGH).
  • Analyzed a cohort of 12 children conceived via ICSI.
  • Compared findings with a control group of 30 naturally conceived children.

Main Results:

  • Identified 10 de novo genomic copy number changes (primarily losses) in 6 out of 12 ICSI children.
  • Observed similar changes in only 6 out of 30 children in the naturally conceived control group.
  • The observed differences suggest a potential link between ICSI and de novo copy number alterations, though the study group size is limited.

Conclusions:

  • Found de novo alterations at loci known to be susceptible to large DNA segment copy number changes.
  • Hypothesized potential molecular mechanisms, including delayed male meiotic synapsis and replication fork stalling.
  • Emphasized the need for larger studies to validate these preliminary findings regarding ART safety.