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

Ring chromosome 9 with a 9p22.3-p24.3 duplication.

L Seghezzi1, P Maraschio, M Bozzola

  • 1Clinica Pediatrica, Università di Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy.

European Journal of Pediatrics
|September 15, 1999
PubMed
Summary

A ring chromosome 9 was identified in a girl with features of ring 9 syndrome. Genetic studies pinpointed the duplicated region to a specific sub-band, refining understanding of 9p duplication syndrome.

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

Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63.

International journal of cardiology·2025
Same author

Neurofeedback and epilepsy: Renaissance of an old self-regulation method?

Revue neurologique·2024
Same author

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.

Journal of endocrinological investigation·2023
Same author

Sleep and epilepsy: A clinical and pathophysiological overview.

Revue neurologique·2023
Same author

Bone marrow failure may be caused by chromosome anomalies exerting effects on <i>RUNX1T1</i> gene.

Molecular cytogenetics·2018
Same author

A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.

BMC medical genetics·2015

Area of Science:

  • Genetics and Molecular Biology
  • Clinical Dysmorphology
  • Cytogenetics

Background:

  • Ring chromosome 9 is a rare chromosomal abnormality.
  • Ring 9 syndrome is associated with a spectrum of phenotypic features.
  • Duplication of the 9p region can lead to specific developmental abnormalities.

Observation:

  • A patient presented with trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly.
  • These features were consistent with some characteristics of ring 9 syndrome.
  • Typical facial dysmorphic features of 9p duplication were notably absent.

Findings:

  • Cytogenetic and molecular analyses revealed a ring chromosome 9.
  • An inverted duplication of the 9p22.3-p24.3 region was identified.

Related Experiment Videos

  • The duplicated region within the ring chromosome was confined to sub-band 22.3.

    • Implications:

    • This case refines the understanding of the critical region for 9p duplication syndrome.
    • The findings suggest that the responsible chromosome region may be restricted to sub-bands p22.1-p22.2.
    • Further investigation into genotype-phenotype correlations in ring chromosome abnormalities is warranted.