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

Subfertile couple with inv(2),inv(9) and 16qh+.

Malgorzata Srebniak1, Angelika Wawrzkiewicz, Andrzej Wiczkowski

  • 1Department of Perinatology and Gynaecology, Silesian Medical Academy, Plac Traugutta 6, 41-800 Zabrze, Poland. srebna@poczta.onet.pl

Journal of Applied Genetics
|November 4, 2004
PubMed
Summary

A subfertile man carrying two chromosomal inversions, inv(2) and inv(9), was identified after his partner experienced a miscarriage. This genetic anomaly is a likely cause of their fertility issues and risk of pregnancy loss.

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

Patient therapy outcome modeling in cancer organoids is improved by cancer-associated fibroblasts and organoid assembly convolution.

Molecular oncology·2026
Same author

Contemporary management of fetal therapy in prenatal cardiology. Statement of the Fetal Therapy Section of the Polish Society of Gynecologists and Obstetricians.

Ginekologia polska·2025
Same author

Preclinical Positron Emission Tomography Imaging of B7-H3 Expression Using Affibody Molecules Labeled with Gallium-68.

ACS pharmacology & translational science·2025
Same author

Comparison of SARS-CoV-2 immune responses following vaccination with Comirnaty (Pfizer) and Vaxzevria (AstraZeneca) in healthy individuals with or without prior SARS-CoV-2 infection.

Frontiers in immunology·2025
Same author

Current Diagnostic, Counseling, and Treatment Options in Non-Severe and Severe Apparently Isolated Fetal Ventriculomegaly.

Biomedicines·2025
Same author

Environmental exposure to lead and cadmium only minimally affects the redox system of the follicular fluid and the outcome of intracytoplasmic sperm injection.

Toxicology and industrial health·2024

Area of Science:

  • Human Genetics
  • Reproductive Biology
  • Cytogenetics

Background:

  • Subfertility and recurrent spontaneous abortions are significant reproductive health concerns.
  • Chromosomal abnormalities are a known factor contributing to infertility and pregnancy loss.
  • Karyotyping is a crucial diagnostic tool for identifying genetic causes of reproductive failure.

Observation:

  • A couple experiencing subfertility and a spontaneous abortion was referred for cytogenetic evaluation.
  • The female partner exhibited a normal karyotype (46,XX,16qh+).
  • The male partner was found to carry two pericentric chromosomal inversions: inv(2)(p11q13) and inv(9)(p11q13).

Findings:

  • The male partner's karyotype revealed two distinct pericentric inversions, inv(2) and inv(9).

Related Experiment Videos

  • These inversions, while not directly causing a loss of genetic material, can lead to unbalanced gametes during meiosis.
  • The presence of these inversions in the male partner is strongly suspected as the cause of the couple's subfertility and history of miscarriage.

    • Implications:

    • Identifying chromosomal inversions in one partner can explain reproductive challenges within a couple.
    • Genetic counseling is essential for couples with carriers of inversions to understand risks and reproductive options.
    • While the risk of miscarriage is elevated, the probability of viable offspring with unbalanced karyotypes may be low due to potential lethality of recombinant gametes.