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Karyotyping

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...

Karyotyping

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...

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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...

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Related Experiment Video

Updated: Jun 4, 2026

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

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

Published on: February 21, 2015

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization.

E Vanneste¹, C Melotte, T Voet

¹Center for Human Genetics, UZ Gasthuisberg, 3000 Leuven, Belgium.

Human Reproduction (Oxford, England)

|February 5, 2011

Summary

This summary is machine-generated.

Preimplantation genetic diagnosis using single-cell array comparative genomic hybridization can identify chromosomal rearrangements. This technology shows promise for preventing chromosomally unbalanced conceptions in carriers.

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Last Updated: Jun 4, 2026

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

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

Published on: February 21, 2015

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

Area of Science:

Reproductive Medicine
Genetics
Embryology

Background:

Patients with chromosomal rearrangements (CRs) face increased risks of chromosomally unbalanced conceptions.
Preimplantation genetic diagnosis (PGD) aims to improve pregnancy success by avoiding the transfer of chromosomally abnormal embryos.

Observation:

Single-cell array comparative genomic hybridization (aCGH) offers genome-wide imbalance detection, surpassing the limited loci screened by fluorescence in situ hybridization.
PGD was performed for a CR carrier using aCGH, selecting embryos based on copy number status of rearranged chromosomes.

Findings:

Two ICSI-PGD cycles analyzed 16 embryos, yielding 4 suitable for transfer.
The transferred embryo resulted in pregnancy but ended in miscarriage; subsequent analysis revealed mosaicism in chorionic tissue, with some cells showing monosomy 9.
Single-cell array technology demonstrated 100% sensitivity and 88.8% specificity for detecting chromosomal imbalances related to CRs.

Implications:

This study confirms the feasibility and accuracy of single-cell aCGH for PGD in CR carriers.
The findings highlight that the genomic status of extra-embryonic tissue may not always correlate with that of a single biopsied blastomere.