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

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

You might also read

Related Articles

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

Sort by
Same author

Cytogenetic and Microarray Analysis Follow-Up of PGT-A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of Confirmation and Follow-Up Recommendations.

Prenatal diagnosis·2026
Same author

Prenatal Microarray Analysis of Pregnancies Without Ultrasound Anomalies: Establishment of Copy Number and Homozygosity Frequencies in Low-Risk Population.

Genes·2026
Same author

An open-label pilot study of psilocybin-assisted therapy for binge eating disorder.

Journal of eating disorders·2026
Same author

Diazoxide Choline Extended-release Tablets in Prader-Willi Syndrome: A Randomized, Double-blind, Withdrawal Period Study.

The Journal of clinical endocrinology and metabolism·2026
Same author

Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications.

American journal of medical genetics. Part A·2025
Same author

Blood Glucose Levels and Diabetes Family Conflict in Black Adolescents with Type 1 Diabetes During the COVID-19 Pandemic.

Behavioral medicine (Washington, D.C.)·2025
Same journal

RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort.

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

Expanding the clinical spectrum of RNU4ATAC-opathies: more frequent and diverse than assumed.

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

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

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

Beyond Mistrust: Diverse Biobanking Preferences Among Parents and Adolescents with Sickle Cell Disease.

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

Correspondence on "Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms" by Pastor et al.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
See all related articles

Related Experiment Video

Updated: May 25, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
08:30

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

Prader-Willi syndrome.

Suzanne B Cassidy1, Stuart Schwartz, Jennifer L Miller

  • 1Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA. suzannecassidy@comcast.net

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|January 13, 2012
PubMed
Summary
This summary is machine-generated.

Prader-Willi syndrome is a genetic disorder affecting development, characterized by hypotonia, obesity, and developmental delays. Genetic testing, including DNA methylation analysis, is crucial for diagnosis and understanding the molecular basis.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: May 25, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
08:30

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder

Published on: September 6, 2024

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Prader-Willi syndrome presents with a complex phenotype including hypotonia, hypogonadism, obesity, developmental delay, and distinct facial features.
  • Sleep abnormalities and scoliosis are common comorbidities, and growth hormone insufficiency is frequently observed.

Purpose of the Study:

  • To outline the key clinical characteristics and diagnostic criteria for Prader-Willi syndrome.
  • To detail the genetic underpinnings of Prader-Willi syndrome, including common molecular classes.
  • To emphasize the importance of genetic testing for accurate diagnosis and management.

Main Methods:

  • Diagnosis relies on consensus clinical criteria, confirmed by genetic testing.
  • Genetic testing includes parent-specific DNA methylation analysis to detect >99% of cases.
  • Further genetic studies are needed to identify specific molecular classes, such as deletions, uniparental disomy, or imprinting defects.

Main Results:

  • Prader-Willi syndrome is caused by the absence of paternally expressed imprinted genes at 15q11.2-q13.
  • The most common genetic causes are paternal deletion (65-75%) and maternal uniparental disomy 15 (20-30%).
  • Absence of the SNORD116 gene is implicated in many clinical features.

Conclusions:

  • Accurate diagnosis of Prader-Willi syndrome requires genetic confirmation.
  • Understanding the molecular basis is essential for comprehensive management and genetic counseling.
  • While sibling recurrence risk is low, prenatal diagnosis is available.