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

t(1;18)(q32.1;q22.1) associated with genitourinary malformations

E R Frizell1, R Sutphen, F B Diamond

  • 1Department of Biochemistry and Molecular Pharmacology, Thomas Jefferson University, Philadelphia, PA 19107, USA.

Clinical Genetics
|November 27, 1998
PubMed
Summary

A male infant with hypospadias and developmental delay presented with a rare chromosome translocation. This finding suggests a gene critical for genitourinary development is located near the chromosome 18 breakpoint.

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

Limitations in Rechargeability of Li-O2 Batteries and Possible Origins.

The journal of physical chemistry letters·2015
Same author

Obesity and survival among women with ovarian cancer: results from the Ovarian Cancer Association Consortium.

British journal of cancer·2015
Same author

Encapsulation of cells in agarose beads.

Methods in molecular biology (Clifton, N.J.)·2011
Same author

Lynching in Britain.

History today·2011
Same author

Continuous spinal analgesia after extensive lumbar spine surgery.

Anaesthesia and intensive care·2009
Same author

Downstream from calcium signalling: mitochondria, vacuoles and pancreatic acinar cell damage.

Acta physiologica (Oxford, England)·2008

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Urology

Background:

  • Genitourinary malformations can arise from complex genetic factors.
  • Chromosome abnormalities are known causes of congenital anomalies.

Purpose of the Study:

  • To report a case of a male infant with genitourinary anomalies and a specific chromosomal translocation.
  • To investigate the genetic basis of genitourinary development through case study.

Main Methods:

  • Karyotyping to identify chromosomal abnormalities.
  • Fluorescent in situ hybridization (FISH) to precisely map translocation breakpoints.

Main Results:

  • The infant exhibited impaired penile development, hypospadias, and mild developmental delay.

Related Experiment Videos

  • Karyotype revealed a 46,XY,t(1;18)(q32.1;q22.1) translocation.
  • FISH analysis mapped the breakpoint to a region associated with 18q- syndrome-related genitourinary malformations.

    • Conclusions:

    • The identified translocation breakpoint is a potential site for genes influencing genitourinary development.
    • This case highlights the role of specific chromosomal regions in male reproductive development.