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

Karyotyping

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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...

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,...

Pedigree Analysis

Pedigree Analysis

You might also read

Related Articles

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

Sort by

Same author

Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.

Orphanet journal of rare diseases·2024

Same author

Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.

Orphanet journal of rare diseases·2024

Same author

Persistent Müllerian duct syndrome due to anti-Müllerian hormone receptor 2 microdeletions: a diagnostic challenge.

Human reproduction (Oxford, England)·2020

Same author

Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.

Revue neurologique·2019

Same author

The natural history of classic galactosemia: lessons from the GalNet registry.

Orphanet journal of rare diseases·2019

Same author

[Mild hemophilia A fortuitously discovered during Henoch-Schönlein purpura].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2015

Search research articles

Related Experiment Video

Updated: Jul 19, 2026

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

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

Published on: February 21, 2015

Terminal 14q32.33 deletion: genotype-phenotype correlation.

M-L Maurin¹, S Brisset, M Le Lorc'h

¹Service d'Histologie Embryologie Cytogénétique APHP, INSERM U782, Hôpital Antoine Béclère, Clamart, France. marie-laure.maurin@abc.aphp.fr

American Journal of Medical Genetics. Part A

|October 6, 2006

Summary

This study identifies the smallest terminal 14q deletion, pinpointing a critical region for developmental disorders. This finding advances understanding of chromosome 14 abnormalities and associated genetic conditions.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jul 19, 2026

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

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

Published on: February 21, 2015

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Area of Science:

Genetics
Developmental Biology
Clinical Cytogenetics

Background:

Terminal deletions of chromosome 14q are rare genetic disorders associated with intellectual disability and specific facial features.
Understanding the precise genetic loci responsible for these phenotypes is crucial for accurate diagnosis and genetic counseling.

Observation:

A female infant presented with psychomotor retardation and distinct facial dysmorphism.
Cytogenetic analysis revealed a terminal 14q32.33 deletion, representing the smallest reported pure terminal 14q deletion.

Findings:

Genotype-phenotype correlation in this case and literature review suggests a critical region for intellectual disability, hypotonia, and facial anomalies.
This critical region is localized to the subtelomeric 1.6 Mb of chromosome 14q.

Implications:

This research refines the critical region for 14q terminal deletion syndrome, aiding in the diagnosis of similar cases.
The findings contribute to a better understanding of genotype-phenotype correlations in chromosomal deletion syndromes.
Establishes a new smallest terminal deletion for 14q, advancing the field of human genetics and rare disease research.