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

Heteromorphism 18ph+ : with or without reproductive consequences?

A C Tabet1, J M Dupont, A Lebbar

  • 1Service d'Histologie-Embryologie-Cytogénétique et Biologie Cellulaire, Hôpital Bichat-Cl. Bernard, 46, Rue Henri Huchard, 75018, Paris, France. anne-claude.tabet@worldonline.fr

Annales De Genetique
|November 6, 2001
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

Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2018
Same author

[Lutetium-177-PSMA radioligand therapy : Consensus within the framework of GKV-funded care between the university hospitals in Aachen, Bonn, Düsseldorf, Essen, and Cologne and the MDK Nordrhein].

Der Urologe. Ausg. A·2018
Same author

A Step-by-Step Clinical Approach for the Management of Neuroendocrine Tumours.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme·2017
Same author

Inverted duplication with deletion: first interstitial case suggesting a novel undescribed mechanism of formation.

American journal of medical genetics. Part A·2014
Same author

The Yes-associated protein controls the cell density regulation of Hedgehog signaling.

Oncogenesis·2014
Same author

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

Clinical genetics·2013

Chromosomal variants, specifically 18ph+, are typically linked to heterochromatin. New research confirms the molecular nature of 18ph+ and suggests a potential link to adverse clinical outcomes like recurrent abortions.

Area of Science:

  • Genetics
  • Cytogenetics
  • Molecular Biology

Background:

  • Heteromorphism and chromosomal variants often arise from structural variations in constitutive heterochromatin.
  • The 18ph+ variant of chromosome 18 has been reported in 25 cases previously.
  • While generally considered benign, the clinical significance of chromosomal variants requires ongoing investigation.

Observation:

  • Two new cases of 18ph+ were investigated using the Primed In Situ Labelling (PRINS) technique.
  • PRINS analysis confirmed the molecular characteristics and elucidated the formation mechanism of these variants.

Findings:

  • The study confirmed the molecular nature of two new 18ph+ cases.
  • A review of existing literature indicates a potential association between 18ph+ and adverse clinical outcomes.

Related Experiment Videos

Implications:

  • While often considered clinically benign, 18ph+ variants may be linked to recurrent abortions and congenital anomalies.
  • This suggests a need for re-evaluation of the clinical significance of 18ph+ in genetic counseling and diagnostics.