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

Molecular analysis in Turner syndrome.

Francisco ALvarez-Nava1, Marisol Soto, María A Sánchez

  • 1Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela. falvareznava@yahoo.com

The Journal of Pediatrics
|March 18, 2003
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

Diabetes in Turner syndrome: a distinct entity demanding specific therapeutic strategies.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology·2026
Same author

Efficacy and Tolerability of a New Facial 2-Mercaptonicotinoyl Glycine-Containing Depigmenting Serum Versus Hydroquinone 4% over 3-Month Treatment of Facial Melasma.

Dermatology and therapy·2025
Same author

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis.

American journal of medical genetics. Part C, Seminars in medical genetics·2025
Same author

Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes.

American journal of medical genetics. Part C, Seminars in medical genetics·2025
Same author

Association between consensus-based nutrition pathway and growth faltering in infants with gastroschisis: A retrospective cohort study.

JPEN. Journal of parenteral and enteral nutrition·2024
Same author

Single nucleotide variants in the <i>CCL2</i>, <i>OAS1</i> and <i>DPP9</i> genes and their association with the severity of COVID-19 in an Ecuadorian population.

Frontiers in cellular and infection microbiology·2024

Detecting Y-chromosome material in Turner syndrome (TS) patients is crucial, even without visible Y chromosomes or virilization. DNA analysis can identify Y-sequences in patients with TS, aiding in the evaluation for conditions like gonadoblastoma.

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Turner syndrome (TS) frequently presents with Y-chromosome material, yet gonadoblastoma occurrence appears low.
  • Evaluating the utility of DNA analysis in TS patients is essential for comprehensive care.

Purpose of the Study:

  • To assess the diagnostic value of DNA analysis for detecting Y-chromosome material in Turner syndrome patients.
  • To investigate the correlation between Y-chromosome material and gonadoblastoma in TS.

Main Methods:

  • Study included 52 unrelated Venezuelan mestizo patients diagnosed with TS via cytogenetic analysis.
  • Methods involved clinical assessment, karyotyping, endocrine evaluation, fluorescence in situ hybridization (FISH), and Y-chromosome specific DNA analysis.
  • Y-chromosome loci were analyzed using polymerase chain reaction (PCR).

Related Experiment Videos

Main Results:

  • Y-chromosome material was detected in 7.69% (4/52) of TS patients.
  • Gonadoblastoma occurred in 3.85% (2/52) of patients.
  • Two patients with 45,X/46,XY karyotype lacked gonadoblastoma. Two 45,X patients, negative for Y-chromosome on initial karyotype but positive via DNA analysis, had bilateral gonadoblastoma. Y-chromosome material in lymphocytes correlated with Y-chromosome sequences in gonadal DNA.

Conclusions:

  • Detection of Y-chromosome material is recommended for all TS patients, not solely those with identifiable Y chromosomes or virilization.
  • DNA analysis is a valuable tool for identifying Y-chromosome material in TS, aiding in gonadoblastoma risk assessment.
  • Early and comprehensive screening for Y-chromosome material can improve management of TS patients.