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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...
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Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...

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Related Experiment Video

Updated: Jun 16, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

Jeroen Breckpot1, Bernard Thienpont, Hilde Peeters

  • 1Center of Human Genetics, University Hospitals Leuven, Leuven, Belgium.

The Journal of Pediatrics
|February 9, 2010
PubMed
Summary

Array comparative genomic hybridization (aCGH) aids in diagnosing syndromic congenital heart defects (CHD). Molecular karyotyping diagnoses at least 18% of patients, with dysmorphism predicting diagnostic success.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Syndromic congenital heart defects (CHD) often have unknown causes.
  • Array comparative genomic hybridization (aCGH) is a molecular karyotyping technique.

Purpose of the Study:

  • To evaluate the clinical utility of aCGH for diagnosing syndromic CHD.
  • To assess the impact of resolution on variant detection and interpretation.

Main Methods:

  • 150 patients with syndromic CHD underwent 1-Mb resolution aCGH.
  • 29 patients with normal results were re-analyzed with higher resolution 244-K oligo-microarray.
  • Logistic regression and a causality algorithm were used to evaluate variants.

Main Results:

  • 1-Mb aCGH identified 26 causal variants in 18% of patients.
  • Dysmorphism was the only significant predictor of diagnosis.
  • Higher resolution analysis increased detected variants, including those of unknown significance.

Conclusions:

  • Molecular karyotyping is effective for diagnosing syndromic CHD.
  • Higher resolution aCGH increases the detection of variants, necessitating careful interpretation.