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

Atrioventricular canal associated with trisomy 9.

B Marino1, M C Digilio, A Giannotti

  • 1Department of Pediatric Cardiology and Genetics, Bambino Gesu Hospital, Rome, Italy.

Chest
|December 1, 1989
PubMed
Summary

A rare case of trisomy 9 in a newborn with an atrioventricular canal and left-sided obstruction is presented. This unique combination of congenital anomalies has not been previously documented in medical literature.

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

Neural Stimulation Hardware for the Selective Intrafascicular Modulation of the Vagus Nerve.

IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society·2023
Same author

Decoding bladder state from pudendal intraneural signals in pigs.

APL bioengineering·2023
Same author

Postural anomaly of the head-neck-shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome).

Clinical genetics·2003
Same author

Impact of antiviral treatment on recurrence of hepatitis B virus infection and disease.

Transplantation proceedings·2003
Same author

Recurrence of HCV infection in liver transplant patients: evaluation of IgM anti-HCV and IgM anti-CMV.

Transplantation proceedings·2003
Same author

Deletion of the SHOX gene in patients with short stature of unknown cause.

American journal of medical genetics. Part A·2003

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Clinical Dysmorphology

Background:

  • Trisomy 9 is a rare chromosomal abnormality associated with significant congenital anomalies.
  • Atrioventricular canal defects are common congenital heart conditions, often seen in Down syndrome.
  • Left-sided cardiac obstructions can occur in various congenital heart diseases.

Observation:

  • A newborn presented with the full clinical features of trisomy 9.
  • The infant also exhibited an atrioventricular canal, a cardiac anomaly.
  • A left-sided obstruction was noted, an association less typical for atrioventricular canal without Down syndrome.

Findings:

  • This is the first reported case detailing the co-occurrence of trisomy 9 with an atrioventricular canal.

Related Experiment Videos

  • The presence of a left-sided obstruction in this specific trisomy 9 context is a novel observation.
  • The findings highlight a potentially distinct cardiac phenotype associated with trisomy 9.

    • Implications:

    • This case expands the known spectrum of congenital anomalies in trisomy 9.
    • It suggests a possible association between trisomy 9 and specific cardiac malformations, including left-sided obstructions.
    • Further research may clarify the genetic and developmental mechanisms underlying these combined anomalies.