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

Karyotyping01:17

Karyotyping

69.2K
Overview
69.2K
Sex-linked Disorders01:43

Sex-linked Disorders

109.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
109.8K

You might also read

Related Articles

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

Sort by
Same author

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I.

PLoS genetics·2026
Same author

Pediatric liver transplantation for metabolic diseases: a single-center experience.

World journal of pediatrics : WJP·2026
Same author

Resources and care structures for management of urea cycle disorders in Japan and the United States: A system-level comparison.

Molecular genetics and metabolism·2026
Same author

Predicting epistasis across proteins by structural logic.

Proceedings of the National Academy of Sciences of the United States of America·2026
Same author

Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.

Molecular genetics and metabolism·2025
Same author

Infantile Spasms in Inborn Errors of Metabolism: Diagnostic and Therapeutic Considerations.

Journal of child neurology·2025

Related Experiment Video

Updated: Mar 1, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K

Do the data really support ordering fragile X testing as a first-tier test without clinical features?

Veronique Weinstein1, Pranoot Tanpaiboon1, Kimberly A Chapman1

  • 1Division of Genetics and Metabolism, Children's National Health System, Washington, DC, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|May 26, 2017
PubMed
Summary

Chromosome microarray analysis (CMA) is effective for males with intellectual disabilities/learning delay (ID/LD), but fragile X syndrome (FX) testing may not be necessary as a first-tier test for autism spectrum disorders (ASDs).

More Related Videos

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting
08:13

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting

Published on: April 9, 2019

15.0K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K

Related Experiment Videos

Last Updated: Mar 1, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K
Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting
08:13

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting

Published on: April 9, 2019

15.0K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders

Background:

  • Current guidelines suggest first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).
  • The diagnostic yield of these first-tier tests in this population requires further investigation.

Purpose of the Study:

  • To evaluate the detection rates of CMA and FX testing in males with ID/LD and ASDs.
  • To assess the necessity of FX testing as a first-tier diagnostic tool for these conditions.

Main Methods:

  • Retrospective analysis of 310 males with ID/LD or ASD who underwent CMA and/or FX testing.
  • Comparison of detection rates with existing literature.

Main Results:

  • CMA detected abnormalities in 29% of males with ID/LD and 9% of males with ASD.
  • FX testing identified pathogenic variants in 2.5% of males with ID/LD, with specific clinical features.
  • No positive FX test results were observed in males with ASD.

Conclusions:

  • CMA shows a higher detection rate in males with isolated ID/LD than previously reported.
  • FX testing has a low yield in males with ASD, suggesting it may not be a necessary first-tier test.
  • Clinical features and family history may guide the necessity of FX testing in males with ID/LD.