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

Pleiotropy

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,...

Oppositional Defiant Disorder

Oppositional Defiant Disorder

A persistent pattern of angry or irritable mood, defiant behavior, or vindictiveness characterizes Oppositional Defiant Disorder (ODD). Symptoms must occur over at least six months, involve interactions with individuals beyond siblings, and meet specific diagnostic criteria to be clinically significant. The disorder affects emotional regulation, social interactions, and behavior, often manifesting early in life and influencing long-term development and functioning.
Diagnostic Criteria and...

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.

Meiosis I

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by...

Cushing Syndrome II: Pathophysiology

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features...

Genomic Imprinting and Inheritance

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...

You might also read

Related Articles

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

Sort by

Same author

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses in vivo and in vitro in four human cell types.

Cell genomics·2024

Same author

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Movement disorders : official journal of the Movement Disorder Society·2024

Same author

Stable and robust Xi and Y transcriptomes drive cell-type-specific autosomal and Xa responses <i>in vivo</i> and <i>in vitro</i> in four human cell types.

bioRxiv : the preprint server for biology·2024

Same author

The human Y and inactive X chromosomes similarly modulate autosomal gene expression.

Cell genomics·2024

Same author

Parental perspectives of episodic irritability in an ultra-rare genetic disorder associated with NACC1.

Orphanet journal of rare diseases·2023

Same author

The human Y and inactive X chromosomes similarly modulate autosomal gene expression.

bioRxiv : the preprint server for biology·2023

Same journal

For Post-stent Patients With Atherosclerotic Coronary Vascular Disease Who Are Taking an Anticoagulant, Adding Aspirin Worsens Outcomes.

American family physician·2026

Same journal

Nausea and Vomiting During Pregnancy.

American family physician·2026

Same journal

Metabolic Dysfunction-Associated Steatotic Liver Disease: Diagnosis and Management.

American family physician·2026

Same journal

Aerobic Exercise Is the Better Exercise Modality for Knee Osteoarthritis.

American family physician·2026

Same journal

Overscreening Leads to Overdiagnosis of MASLD.

American family physician·2026

Same journal

Type 2 Diabetes: Outpatient Insulin Management.

American family physician·2026

See all related articles

Search research articles

Related Experiment Video

Updated: May 3, 2026

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

Noonan syndrome.

Vikas Bhambhani¹, Maximilian Muenke¹

¹National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

American Family Physician

|January 22, 2014

Summary

This summary is machine-generated.

Noonan syndrome is a genetic disorder causing congenital abnormalities and health issues. Molecular genetic testing confirms diagnosis in 70% of cases, aiding in counseling and management.

More Related Videos

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Published on: January 15, 2013

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo

Published on: July 9, 2019

Related Experiment Videos

Last Updated: May 3, 2026

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Integrated Photoacoustic Ophthalmoscopy and Spectral-domain Optical Coherence Tomography

Published on: January 15, 2013

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo

Published on: July 9, 2019

Area of Science:

Genetics
Pediatrics
Medical Genetics

Background:

Noonan syndrome is a common genetic disorder.
It presents with diverse congenital abnormalities and health conditions.
Characteristic features include distinct facial features, neck abnormalities, and cardiac issues.

Purpose of the Study:

To summarize the key aspects of Noonan syndrome.
To highlight diagnostic approaches and implications.
To inform genetic counseling and patient management.

Main Methods:

Review of clinical features and inheritance patterns.
Discussion of diagnostic criteria.
Emphasis on molecular genetic testing capabilities.

Main Results:

Noonan syndrome involves multiple congenital abnormalities.
Autosomal dominant inheritance is typical, often from de novo mutations.
Molecular genetic testing confirms diagnosis in 70% of cases.

Conclusions:

Early and accurate diagnosis is crucial for management.
Genetic testing is vital for confirmation and counseling.
Multidisciplinary care and age-specific guidelines improve outcomes.