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 Concept Videos

Infertility in Males01:23

Infertility in Males

473
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
473
DNA Microarrays02:34

DNA Microarrays

20.3K
Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
20.3K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Whose Role Is It, Anyway? Ensuring Correct Genomic Variant Nomenclature in Published Literature.

Clinical chemistry·2026
Same author

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.

Genetics in medicine open·2025
Same author

Integrative cytogenetic and molecular studies unmask "chromosomal mimicry" in hematologic malignancies.

Blood advances·2025
Same author

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors.

Genetics in medicine open·2024
Same author

Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing.

The Journal of molecular diagnostics : JMD·2024
Same author

Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.

Clinical chemistry·2023

Related Experiment Video

Updated: Dec 16, 2025

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

1.3K

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.

Kelsey J McIntyre1, Elissa Murphy2, Lauren Mertens3

  • 1Department of Pathology, Harvard Medical School and Brigham and Women's Hospital, Boston, Massachusetts; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota.

The Journal of Molecular Diagnostics : JMD
|July 3, 2020
PubMed
Summary

Chromosomal microarray (CMA) effectively detects Y-chromosome microdeletions and other genetic anomalies in male infertility. This approach simplifies testing and improves the comprehensive analysis of genetic causes for oligospermia/azoospermia.

More Related Videos

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.8K
Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

9.3K

Related Experiment Videos

Last Updated: Dec 16, 2025

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
11:08

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization

Published on: April 7, 2023

1.3K
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

9.8K
Using Mouse Oocytes to Assess Human Gene Function During Meiosis I
11:13

Using Mouse Oocytes to Assess Human Gene Function During Meiosis I

Published on: April 10, 2018

9.3K

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Cytogenetics

Background:

  • Genetic analysis is crucial for male infertility diagnosis, particularly for oligospermia/azoospermia.
  • Current guidelines recommend karyotype and Y-chromosome microdeletion analyses, often requiring separate samples and labs, leading to potential errors and workflow limitations.

Purpose of the Study:

  • To evaluate the effectiveness of chromosomal microarray (CMA) for detecting Y-chromosome microdeletions and other genetic abnormalities in male infertility.
  • To assess a streamlined testing strategy using CMA for simultaneous analysis of Y-microdeletions and numerical chromosome abnormalities.

Main Methods:

  • A cohort of 21 cases with known Y-chromosome microdeletions were tested using the CytoScan HD platform (CMA).
  • The study compared CMA results with standard genetic analyses for male infertility workup.

Main Results:

  • CMA successfully identified all known Y-chromosome microdeletions in the tested cases.
  • In 52% of cases, CMA detected additional clinically significant cytogenetic anomalies, including 46, XX males, isodicentric Y, dicentric Y, and terminal Yq deletions.

Conclusions:

  • Chromosomal microarray (CMA) is a highly effective method for detecting Y-chromosome microdeletions and associated genetic causes of male infertility.
  • Implementing CMA as a primary diagnostic tool simplifies sample handling, reduces errors, and enables integrated interpretation of genetic findings for oligospermia/azoospermia.