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

69.6K
Overview
69.6K

You might also read

Related Articles

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

Sort by
Same author

Long-term outcome in children with infantile epileptic spasms syndrome: a multicenter retrospective study in Korea.

Clinical and experimental pediatrics·2026
Same author

Myostatin inhibition with orally administered <i>Lactobacillus casei</i> expressing a modified human myostatin protein: functional benefits and translational potential in advanced Duchenne muscular dystrophy.

Frontiers in neurology·2026
Same author

HLA-A*2402 May Be Associated With Antiseizure Medication-Induced Severe Mucocutaneous Adverse Events in Korean Population.

Journal of clinical neurology (Seoul, Korea)·2026
Same author

Quantitative Muscle Ultrasound: A Non-Invasive Biomarker for Monitoring Duchenne Muscular Dystrophy.

Muscle & nerve·2025
Same author

Development and Evaluation of an Electronic Health Record-Generated Clinical Coverage Scoring System Compared to Human Decision-Making in Pediatric Surgical Patients: A Single Center Experience.

Paediatric anaesthesia·2025
Same author

Evaluation of AAV transduction efficiency via multiple delivery routes: Insights from peripheral and central nervous system analysis.

Neuroscience·2025

Related Experiment Video

Updated: Mar 12, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.6K

Using Array-Based Comparative Genomic Hybridization to Diagnose Pallister-Killian Syndrome.

Mi Na Lee1, Jiwon Lee2, Hee Joon Yu2

  • 1Green Cross Laboratories, Yongin, Korea.

Annals of Laboratory Medicine
|November 12, 2016
PubMed
Summary

Pallister-Killian syndrome (PKS) is a rare genetic disorder. This study successfully diagnosed three pediatric PKS patients using array CGH and FISH on peripheral lymphocytes, a novel approach for this condition.

Keywords:
Array CGHIsochromosome 12pPallister-Killian syndromeTetrasomy 12p

More Related Videos

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
16:37

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

13.4K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K

Related Experiment Videos

Last Updated: Mar 12, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.6K
Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization
16:37

Technical Demonstration of Whole Genome Array Comparative Genomic Hybridization

Published on: August 5, 2008

13.4K
Comparative Lesions Analysis Through a Targeted Sequencing Approach
08:16

Comparative Lesions Analysis Through a Targeted Sequencing Approach

Published on: November 5, 2019

7.3K

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Diagnostics

Background:

  • Pallister-Killian syndrome (PKS) is a rare genetic disorder.
  • It is characterized by isochromosome 12p and tissue-limited mosaic tetrasomy 12p.
  • Diagnosis traditionally involves chromosome analysis on skin fibroblasts or amniotic fluid.

Observation:

  • Three pediatric patients with suspected PKS were evaluated.
  • Clinical features included craniofacial dysmorphic features, hypotonia, and developmental delay.
  • Diagnostic methods included array comparative genomic hybridization (array CGH) and fluorescence in situ hybridization (FISH) on peripheral lymphocytes.

Findings:

  • Array CGH revealed increased copies of 12p in two patients.
  • FISH analysis confirmed trisomy or tetrasomy 12p in all three patients.
  • One patient was diagnosed using FISH analysis alone.

Implications:

  • This study demonstrates the efficacy of array CGH and FISH on peripheral lymphocytes for diagnosing PKS.
  • It presents the first reported case in Korea diagnosed via array CGH on peripheral lymphocytes.
  • These findings may broaden diagnostic accessibility for PKS.