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

Search research articles

Related Experiment Videos

Ring 14 chromosome: association with seizures.

B M Lippe, R S Sparkes

American Journal of Medical Genetics

|January 1, 1981

Summary

Ring 14 chromosome (r(14)) is a rare genetic condition. This case highlights that r(14) can cause developmental delay and seizures, suggesting chromosome analysis for similar unexplained cases.

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

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

Sort by

Same author

Duane syndrome associated with features of the cat-eye syndrome and mosaicism for a supernumerary chromosome probably derived from number 22.

Journal of pediatric ophthalmology and strabismus·2014

Same author

Haplotypes at the DRD2 locus and severe alcoholism.

American journal of medical genetics·2000

Same author

A new locus for autosomal dominant cataract on chromosome 12q13.

Investigative ophthalmology & visual science·2000

Same author

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy.

Advances in neurology·1999

Same author

Linkage analysis and loss of heterozygosity for chromosome arm 1p in familial breast cancer.

Genes, chromosomes & cancer·1999

Same author

D2 dopamine receptor and GABA(A) receptor beta3 subunit genes and alcoholism.

Psychiatry research·1998

Area of Science:

Genetics
Neurology
Developmental Pediatrics

Background:

Ring chromosome 14 (r(14)) is a rare chromosomal abnormality.
Patients with r(14) often present with neurological and developmental issues.

Observation:

A one-year-old male presented with seizures and developmental delay.
Genetic analysis revealed a ring 14 chromosome without significant band deletion.

Findings:

The patient exhibited focal cerebral atrophy, a dominant manifestation.
Minor facial anomalies were also noted in conjunction with neurological symptoms.

Implications:

Ring 14 chromosome abnormalities can lead to non-specific central nervous system maldevelopment and dysfunction.
Consider chromosomal investigation for unexplained seizures, developmental delay, and minor anomalies.