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 Experiment Videos

5p14 deletion associated with microcephaly and seizures.

E I Johnson1, R C Marinescu, H H Punnett

  • 1Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107-5541, USA.

Journal of Medical Genetics
|February 9, 2000
PubMed
Summary

A father and son with a 5p14 deletion show varying clinical outcomes. This finding indicates that 5p14 deletions do not always result in a normal phenotype, highlighting genetic variability.

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

Quinacrine fluorescence and Giemsa banding in trisomy 22.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2014
Same author

Encapsulation of cells in agarose beads.

Methods in molecular biology (Clifton, N.J.)·2011
Same author

Feasibility and validity of computerized ambulatory monitoring in stroke patients.

Neurology·2009
Same author

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.

Journal of medical genetics·2001
Same author

The first three mosaic cri du chat syndrome patients with two rearranged cell lines.

Journal of medical genetics·2001
Same author

Quality of human immunodeficiency virus viral load testing in Australia.

Journal of clinical microbiology·2000

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • Interstitial deletions of chromosome 5p14 can occur in families.
  • Previous studies have described multigenerational families with 5p14 deletions and no apparent clinical phenotype.

Observation:

  • A father and son presented with an interstitial deletion of 5p14.
  • The father was phenotypically and mentally normal.
  • The son exhibited significant clinical involvement, including microcephaly, seizures, and global developmental delay.

Findings:

  • Fluorescence in situ hybridisation (FISH) confirmed the 5p14 deletion in both individuals.
  • The deletion size in the son was smaller than previously reported deletions in unaffected individuals.
  • This case demonstrates variable expressivity associated with 5p14 deletions.

Related Experiment Videos

Implications:

  • The size and specific breakpoints of 5p14 deletions may influence clinical presentation.
  • Genetic testing and counseling are crucial for families with chromosomal abnormalities.
  • Further research is needed to understand the genotype-phenotype correlations in 5p14 deletions.