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

XO/XY mosaicism in phenotypic males.

K Walker1, A J Gunn, P D Gluckman

  • 1Department of Paediatrics, Auckland School of Medicine, New Zealand.

Archives of Disease in Childhood
|August 1, 1990
PubMed
Summary

Mosaicism (45 XO/46 XY) affects genetic males, leading to varied physical traits. Early karyotyping in short boys is recommended for timely growth hormone therapy and cancer screening.

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

Age at first breeding in Holstein dairy cattle: Effects on age at first calving, production, dystocia, health, and reproduction in primiparous heifers.

Journal of dairy science·2026
Same author

Development of Key Performance Indicators for a National Head and Neck Cancer Audit Feasibility Study.

Clinical oncology (Royal College of Radiologists (Great Britain))·2026
Same author

AB-1002 gene therapy expressing active protein phosphatase inhibitor-1 in heart failure: Rationale and study design of the GenePHIT trial.

European journal of heart failure·2026
Same author

Meta-analysis of the effects of age at first calving on production outcomes, calving difficulty, and reproduction in dairy heifers.

Journal of dairy science·2026
Same author

The National Non-Hodgkin Lymphoma Audit: Insights and Impact.

Clinical oncology (Royal College of Radiologists (Great Britain))·2026
Same author

What can tennis doubles teach us about medical dyads? Translating collaborative expertise into medical education.

Medical teacher·2026

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • 45 XO/46 XY mosaicism is a chromosomal abnormality.
  • This condition can result in diverse phenotypic presentations, including in males.

Purpose of the Study:

  • To describe cases of 45 XO/46 XY mosaicism.
  • To highlight the importance of karyotyping in phenotypic males with this condition.
  • To suggest potential benefits of early diagnosis and intervention.

Main Methods:

  • Case series description.
  • Karyotyping analysis.

Main Results:

  • Eight cases of 45 XO/46 XY mosaicism were identified.
  • Four of the described cases were phenotypic males.
  • Short stature was a noted characteristic.

Conclusions:

  • Karyotyping should be considered more frequently in evaluating short boys.
  • Early detection of 45 XO/46 XY mosaicism may facilitate beneficial growth hormone treatment.
  • Testicular biopsy for carcinoma in situ screening is advised in relevant cases.

Related Experiment Videos