Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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...
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...
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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Response to Crizotinib in Infantile Fibrosarcoma with <i>TFG::MET</i> Gene Fusion.

The New England journal of medicine·2026
Same author

New genotype-phenotype correlations and management recommendations for individuals with RERE variants.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Targeted Anti-IL-1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L-Related Arrhythmogenic Cardiomyopathy.

American journal of medical genetics. Part A·2026
Same author

Paediatric inherited arrhythmia clinic: developing a new model of care.

BMJ paediatrics open·2026
Same author

Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.

Clinical cancer research : an official journal of the American Association for Cancer Research·2026
Same author

Genomics and precision medicine: The expanding role of general practitioners.

Australian journal of general practice·2026
Same journal

The Hidden Face of Rickets: Unmasking Osteopetrorickets in a 2-Month-Old Infant.

Journal of paediatrics and child health·2026
Same journal

Successful Removal of a Postprandially Ingested Metallic Compass Tip via Gastric Lavage-Assisted Endoscopy: A Paediatric Case Report.

Journal of paediatrics and child health·2026
Same journal

Runaway Grace.

Journal of paediatrics and child health·2026
Same journal

Progressive Familial Intrahepatic Cholestasis Type 7 in a 4 Month Old Female, Japanese Infant: A Case Report.

Journal of paediatrics and child health·2026
Same journal

Expanding the Scope of the Digital Native Paradox to Global Critical AI Literacy.

Journal of paediatrics and child health·2026
Same journal

The Accuracy of a Commercial Wearable Neonatal Home-Monitoring Device: A Simulation Study.

Journal of paediatrics and child health·2026
See all related articles
  1. Home
  3. A Practical Guide To Chromosome Microarray Interpretation For Paediatricians.
  1. Home
  3. A Practical Guide To Chromosome Microarray Interpretation For Paediatricians.

Related Experiment Video

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians.

Zachary E McPherson1,2, Margit Shah1,2, Sarah Josephi-Taylor1,2

  • 1Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, Australia.

Journal of Paediatrics and Child Health
|June 27, 2026

View abstract on PubMed

Summary
This summary is machine-generated.

General pediatricians can now better interpret chromosome microarray (CMA) results for neurodevelopmental disorders. This guide clarifies copy number variants (CNV) and streamlines referrals to clinical genetics.

More Related Videos

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

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

Related Experiment Videos

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

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

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:

  • Genetics
  • Pediatrics
  • Genomic Medicine

Background:

  • Chromosome microarray (CMA) is frequently used by pediatricians for neurodevelopmental delay, autism, and congenital abnormalities.
  • CMA has a diagnostic yield of 10-15% but interpreting copy number variants (CNV) can be complex.
  • Practical guidelines for interpreting CMA results are currently lacking for general pediatricians.

Purpose of the Study:

  • To provide general pediatricians with a practical guide for interpreting CMA results.
  • To assist pediatricians in determining the clinical relevance of CMA findings.
  • To guide pediatricians on when to refer patients to clinical genetics.

Main Methods:

  • Discussing clinical indications and diagnostic yield of CMA for various conditions.
  • Outlining pre-test counseling and result discussion strategies.
  • Presenting a table for interpreting CMA results, including pathogenic CNVs, variants of uncertain significance, and incidental findings.

    • Main Results:

    • The guide offers a structured approach to CMA interpretation, addressing different types of genetic findings.
    • It covers management implications, segregation studies, and family planning considerations.
    • It clarifies limitations of CMA and provides clear indications for referral to specialists.

    Conclusions:

    • Pediatricians require a better understanding of genetic testing, including CMA.
    • A practical approach to ordering and interpreting CMA simplifies complex results.
    • This guide aims to improve the management of genetic testing in pediatric care and optimize genetics referrals.