Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

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...

Sex-linked Disorders

Sex-linked Disorders

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.

Myasthenia Gravis: Diagnostic Tests

Myasthenia Gravis: Diagnostic Tests

Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...

You might also read

Related Articles

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

Sort by

Same author

Genetic Heterogeneity Correlated with Phenotypic Variability in 48 Patients with Cystic Fibrosis.

Journal of clinical medicine·2025

Same author

Navigating beyond the surface - prognostic significance of KRAS, NRAS, BRAF, PIK3CA, and TP53 mutations examined by exons.

Frontiers in oncology·2025

Same author

Physical Activity and Cognitive Impairment in a Group of Adults with Down Syndrome from North-Eastern Romania.

Journal of clinical medicine·2024

Same author

Demographic Profile and Clinical Characteristics of Adults with Down Syndrome in North-Eastern Romania.

Clinics and practice·2024

Same author

The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.

International journal of molecular sciences·2024

Same author

Simulated and measured piezoelectric energy harvesting of dynamic load in tires.

Heliyon·2024

Search research articles

Related Experiment Video

Updated: Jul 15, 2026

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

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

[Diagnostic testing in fragile X syndrome].

Adriana Sireteanu¹, Cristina Rusu

¹Cabinetul de Boli Genetice, Spitalul de Copii "Sf. Maria", Iaşi.

Revista Medico-Chirurgicala a Societatii De Medici Si Naturalisti Din Iasi

|April 19, 2007

Summary

Fragile X syndrome, the most common inherited cause of intellectual disability, results from FMR1 gene CGG repeat expansions. Early diagnosis through genetic testing and counseling is crucial for affected individuals and families.

Area of Science:

Genetics
Molecular Biology
Neurology

Context:

Fragile X syndrome is the leading inherited cause of intellectual disability.
The condition stems from expansions of CGG trinucleotide repeats in the FMR1 gene.
Clinical diagnosis can be challenging, particularly in young children, due to a broad spectrum of symptoms.

Purpose:

To highlight the genetic basis and diagnostic challenges of Fragile X syndrome.
To emphasize the importance of genetic testing and counseling for intellectual disability.
To introduce novel diagnostic approaches for Fragile X syndrome.

Summary:

Fragile X syndrome is caused by expanded CGG repeats on the FMR1 gene, leading to intellectual disability.
Clinical diagnosis is difficult, necessitating genetic testing for unexplained intellectual disability.

More Related Videos

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism

Published on: December 28, 2010

Related Experiment Videos

Last Updated: Jul 15, 2026

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

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

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism

Published on: December 28, 2010

Screening involves FMR1 protein detection, with PCR and Southern blot for definitive mutation analysis. Prenatal diagnosis is available.

Impact:

Facilitates earlier and more accurate diagnosis of Fragile X syndrome.
Improves genetic counseling for families affected by Fragile X syndrome.
Supports the development of targeted interventions and management strategies for Fragile X syndrome.