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

Central nervous system malformations in trisomy 9

J A Golden1, W C Schoene

  • 1Department of Pathology, Charles S. Kubik Laboratory of Neuropathology, Massachusetts General Hospital, Boston 02114-3696.

Journal of Neuropathology and Experimental Neurology
|January 1, 1993
PubMed
Summary
This summary is machine-generated.

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

HLA Mismatching Favoring Host-Versus-Graft NK Cell Activity Via KIR3DL1 Is Associated With Improved Outcomes Following Lung Transplantation.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2017
Same author

Prolonged Barium-Impaction Ileus in Two Lung Transplant Recipients With Systemic Sclerosis: Case Report.

Transplantation proceedings·2015
Same author

Bronchoalveolar lavage cell immunophenotyping facilitates diagnosis of lung allograft rejection.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014
Same author

Scedosporium prolificans pericarditis and mycotic aortic aneurysm in a lung transplant recipient receiving voriconazole prophylaxis.

Transplant infectious disease : an official journal of the Transplantation Society·2013
Same author

Cytomegalovirus disease and infection in lung transplant recipients in the setting of planned indefinite valganciclovir prophylaxis.

Transplant infectious disease : an official journal of the Transplantation Society·2012
Same author

Survival following lung transplantation for silicosis and other occupational lung diseases.

Occupational medicine (Oxford, England)·2011

Trisomy 9 is a rare genetic disorder with diverse neurological effects. This study details two cases, expanding the known range of brain abnormalities associated with trisomy 9.

Area of Science:

  • Genetics
  • Neuropathology
  • Developmental Biology

Background:

  • Autosomal trisomies 21, 18, and 13 are common at birth, while others often result in early miscarriage.
  • Trisomy 9, though rare, is compatible with life but has a poorly defined spectrum of clinical manifestations.
  • Central nervous system (CNS) abnormalities are frequent in trisomy 9, often involving the fourth ventricle and cerebellum.

Observation:

  • Two cases of trisomy 9 are presented, highlighting novel neuropathologic findings.
  • The first case exhibited cortical migration anomalies, hippocampal malformations, germinal matrix cysts, syringomyelia, and myelomeningocele.
  • The second case presented with a dilated fourth ventricle, separated cerebellar hemispheres (suggestive of Dandy-Walker malformation), and agenesis of the corpus callosum.

Findings:

Related Experiment Videos

  • These cases significantly broaden the catalog of neuropathologic manifestations linked to trisomy 9.
  • The observed malformations include cortical migration issues, hippocampal anomalies, and posterior fossa defects.
  • The spectrum of CNS abnormalities in trisomy 9 is more varied than previously documented.

Implications:

  • The findings suggest that trisomy 9 should be considered in the differential diagnosis for infants presenting with complex CNS malformations.
  • Further research is needed to fully characterize the neuropathologic spectrum of trisomy 9.
  • This expanded understanding aids in genetic counseling and clinical management of trisomy 9 cases.