Related Experiment Video

Updated: May 1, 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

19.4K

Formation of a familial ring chromosome 18 investigated by SNP-array analysis

Sevim Balci1, Johannes Zschocke, Dieter Kotzot

  • 1Department of Clinical Genetics, Ihsan Doğramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

American Journal of Medical Genetics. Part A
|March 29, 2014
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

2.1K
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

7.9K

Related Experiment Videos

Last Updated: May 1, 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

19.4K
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

2.1K
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

7.9K

Related Concept Videos

Karyotyping01:17

Karyotyping

49.3K
Overview
49.3K
Karyotyping01:17

Karyotyping

10.5K
10.5K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

11.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.6K

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

The Tyrolean Founder MLH1 Variant c.836T>G Causes Lynch Syndrome Due to a Leaky Splice Effect.

Biomolecules·2026

Progression in familial exudative vitreoretinopathy: Long-term clinical course and baseline predictors.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Integrating Optical Genome Mapping into the Genetic Diagnostic Algorithm: Clinical Utility in Unresolved Autosomal Recessive Disorders from a Large Cohort.

Cytogenetic and genome research·2026

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the GfH Genetic Counselor Commission.

Journal of genetic counseling·2026

Harmonising the scope of practice for genetic counsellors in the D-A-CH region: a cross-border consensus for Germany, Austria, and Switzerland.

European journal of human genetics : EJHG·2026

The Impact of Comprehensive Panel NGS Testing and Cascade Family Screening on Early Diagnosis of Prostate Cancer and MINAS (ATM+MITF) Management.

Cancer diagnosis & prognosis·2026

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement.

American journal of medical genetics. Part A·2026

Yunis Varon Syndrome: Characteristic Limb Abnormalities and Refining of the Phenotype.

American journal of medical genetics. Part A·2026

Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities.

American journal of medical genetics. Part A·2026

COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10).

American journal of medical genetics. Part A·2026

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

American journal of medical genetics. Part A·2026

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development.

American journal of medical genetics. Part A·2026

Prenatal environmental determinants of aromatase brain-promoter methylation in cord blood: chemical, airborne, pharmacological, and nutritional factors.

Environmental epigenetics·2026

Proximity-ligation metagenomics reveals differential plasmid and chromosomal antimicrobial resistance gene carriage in disrupted gut ecosystems.

iScience·2026

Intrinsic anti-tumorigenic properties of the skin epithelium promote cancer resistance in naked mole-rats.

iScience·2026

DVE-1 is a telomere-binding protein and links the NuRD complex to telomere regulation in C. elegans.

iScience·2026

DNA methylation profiling identifies long-range epigenetic silencing of clustered protocadherins as a key determinant of meningioma progression.

Nature communications·2026

Integrative Analysis of Nucleotide Metabolism-Related Genes Reveals a Diagnostic Signature and In Silico Functional Disruption in Hypertrophic Scarring.

Journal of burn care & research : official publication of the American Burn Association·2026
See all related articles
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
Jove
Visualize
Contact Us