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

Pedigree Analysis01:35

Pedigree Analysis

Overview
Sex-linked Disorders01:43

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.
Probability Laws01:49

Probability Laws

Overview
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,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

You might also read

Related Articles

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

Sort by
Same author

Ultrasonographic evaluation of fetal posterior fossa anomalies: Six years experience of a tertiary center.

Journal of clinical ultrasound : JCU·2024
Same author

Molecular analysis of 31 cases with fetal skeletal dysplasia.

Journal of perinatal medicine·2024
Same author

Aberrant right subclavian artery in the absence of other prenatal ultrasound findings: Should we still be concerned?

Journal of clinical ultrasound : JCU·2024
Same author

Revisiting Atrioventricular Septal Defects: Exploring Chromosomal Abnormalities, Cardiac and Extracardiac Anomalies in a Contemporary Prenatal Cohort.

Pediatric cardiology·2024
Same author

An analysis of factors affecting survival in prenatally diagnosed omphalocele.

Journal of perinatal medicine·2023
Same author

Contribution of chromosomal microarray analysis and next-generation sequencing to genetic diagnosis in fetuses with normal karyotype.

The journal of obstetrics and gynaecology research·2022

Related Experiment Video

Updated: Jul 6, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Bardet-Biedl syndrome: a case report.

Ali Karaman1

  • 1Department of Genetics, State Hospital, Erzurum, Turkey.

Dermatology Online Journal
|March 6, 2008
PubMed
Summary

Bardet-Biedl syndrome (BBS) is a rare genetic disorder with varied symptoms. This study highlights a BBS patient presenting with multiple pigmented nevi, a less common but significant manifestation.

Area of Science:

  • Genetics
  • Medical Genetics
  • Rare Diseases

Background:

  • Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder.
  • It is genetically heterogeneous with twelve identified genes (BBS1-BBS12).
  • Key features include retinal dystrophy, polydactyly, obesity, hypogonadism, and renal dysfunction.

Observation:

  • This report details a case study of a patient diagnosed with Bardet-Biedl syndrome.
  • A notable clinical observation in this patient was the presence of multiple pigmented nevi.
  • This finding adds to the spectrum of BBS manifestations.

Findings:

  • The patient presented with Bardet-Biedl syndrome.
  • Multiple pigmented nevi were a significant clinical feature in this individual.

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

Related Experiment Videos

Last Updated: Jul 6, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

  • This case underscores the variability in BBS presentation.

    • Implications:

    • Understanding the diverse clinical spectrum of BBS is crucial for accurate diagnosis.
    • Recognizing less common symptoms like multiple pigmented nevi can aid in early identification.
    • Further research into BBS genetics and phenotype correlations is warranted.