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

49.3K
Overview
49.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.1K
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...
1.1K
Pleiotropy01:33

Pleiotropy

31.2K
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,...
31.2K
Meiosis I01:49

Meiosis I

176.7K
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...
176.7K
Positive Symptoms of Schizophrenia: Hallucinations and Delusions01:30

Positive Symptoms of Schizophrenia: Hallucinations and Delusions

1.3K
Schizophrenia is a complex mental health disorder that can manifest with various positive symptoms, including thought, movement, and behavior disorders. These symptoms significantly disrupt cognitive and motor functions, leading to profound effects on an individual's ability to engage with the world.
Thought Disorders
Disorganized and unusual thought processes mark thought disorders in schizophrenia. One key feature is disorganized speech, where an individual's conversation includes...
1.3K
Multiple Sclerosis l: Introduction01:19

Multiple Sclerosis l: Introduction

20
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
20

You might also read

Related Articles

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

Sort by
Same author

Role of mean platelet volume in diagnosis of neonatal sepsis.

JPMA. The Journal of the Pakistan Medical Associationยท2025
Same author

Application of microscopy and spectroscopy in investigating anti-cancer potential of Achyranthes aspera L. leaves.

Microscopy research and techniqueยท2024
Same author

Bedside and laboratory diagnostic testing in myasthenia.

Journal of neurologyยท2022
Same author

Analysis of the Major Investment Object by Using a Novel Approach Based on Neutrosophic Information.

Computational intelligence and neuroscienceยท2022
Same author

Successful Outpatient Management of Children at a Secondary Care Hospital in Pakistan in a Dengue Fever Epidemic and Their Clinical Outcomes.

Journal of tropical medicineยท2021
Same author

Efficacy And Tolerability Of Oral Iron Chelator, Deferasirox.

Journal of Ayub Medical College, Abbottabad : JAMCยท2021

Related Experiment Video

Updated: May 4, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

38.5K

McKusik Kaufman syndrome.

Faisal Raza Malik1, Awais Tahir2, Huma Bashir2

  • 1Department of Paediatrics, Foundation University Medical College, Fauji Foundation Hospital, Rawalpindi, Pakistan. faisalrazamalik@hotmail.com

Journal of Ayub Medical College, Abbottabad : JAMC
|January 9, 2014
PubMed
Summary
This summary is machine-generated.

A 12-year-old boy with congenital anomalies including polydactyly, syndactyly, hypospadias, and undescended testes, alongside Tetralogy of Fallot, was evaluated. Bardet-Biedl syndrome was excluded due to the absence of key features.

More Related Videos

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

853
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

7.1K

Related Experiment Videos

Last Updated: May 4, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
12:47

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease

Published on: February 3, 2012

38.5K
Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

853
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

7.1K

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Developmental Biology

Background:

  • This case highlights the diagnostic challenges in pediatric patients with complex congenital anomalies.
  • Tetralogy of Fallot is a critical congenital heart defect requiring early intervention.

Observation:

  • A 12-year-old male presented with multiple congenital anomalies: polydactyly and syndactyly of hands, hypospadias, and undescended testes.
  • The patient had a known history of Tetralogy of Fallot.

Findings:

  • Bardet-Biedl syndrome was considered but ruled out due to the absence of central obesity, mental retardation, and retinitis pigmentosa.
  • The presented constellation of symptoms required careful differential diagnosis.

Implications:

  • Accurate diagnosis of rare genetic syndromes is crucial for appropriate management and genetic counseling.
  • The lack of available molecular testing for differentiating similar syndromes poses a clinical challenge.