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

Karyotyping01:17

Karyotyping

70.6K
Overview
70.6K
Karyotyping01:17

Karyotyping

12.1K
12.1K
Chromosomal Theory of Inheritance01:39

Chromosomal Theory of Inheritance

61.6K
In 1866, Gregor Mendel published the results of his pea plant breeding experiments, providing evidence for predictable patterns in the inheritance of physical characteristics. The significance of his findings was not immediately recognized. In fact, the existence of genes was unknown at the time. Mendel referred to hereditary units as “factors.”
61.6K

You might also read

Related Articles

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

Sort by
Same author

The role of citizen science in addressing grand challenges in food and agriculture research.

Proceedings. Biological sciences·2018
Same author

Genetics of birth defects.

Pediatric annals·2014
Same author

Dynamics of short- and long-term association between a bacterial plant pathogen and its arthropod vector.

Scientific reports·2014
Same author

Quantitative evaluation of manual kinetic perimetry using computer simulation.

Applied optics·2010
Same author

Rare etiology of autosomal recessive disease in a child with noncarrier parents.

American journal of human genetics·2000
Same author

FRAXA and FRAXE: to test or not to test?

The Journal of pediatrics·1998

Related Experiment Video

Updated: Apr 15, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

84.6K

The cytogenetics laboratory in pediatrics.

L R Shapiro1

  • 1The Mount Sinai School of Medicine, New York, NY, USA.

Pediatric Clinics of North America
|April 15, 2015
PubMed
Summary

Pediatric cytogenetics laboratories are crucial for diagnosing chromosomal aberrations in newborns, affecting 1 in 150 live births. Accurate chromosome analysis, combined with clinical evaluation, is essential for effective genetic counseling.

Area of Science:

  • Pediatric Genetics
  • Cytogenetics
  • Clinical Diagnostics

Background:

  • Chromosomal aberrations occur in approximately 1 in 150 to 175 live births.
  • Accurate diagnosis and genetic counseling are vital for affected children and families.

Purpose of the Study:

  • To define the role of the cytogenetics laboratory in pediatric care.
  • To identify indications for major cytogenetic techniques.
  • To emphasize the utility and limitations of these techniques.

Main Methods:

  • Review and discussion of cytogenetic laboratory roles in pediatrics.
  • Identification of indications for key cytogenetic techniques.
  • Emphasis on the correlation between laboratory findings and clinical evaluation.

More Related Videos

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.7K
Automated Cell Enrichment of Cytomegalovirus-specific T cells for Clinical Applications using the Cytokine-capture System
10:24

Automated Cell Enrichment of Cytomegalovirus-specific T cells for Clinical Applications using the Cytokine-capture System

Published on: October 5, 2015

13.0K

Related Experiment Videos

Last Updated: Apr 15, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

84.6K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.7K
Automated Cell Enrichment of Cytomegalovirus-specific T cells for Clinical Applications using the Cytokine-capture System
10:24

Automated Cell Enrichment of Cytomegalovirus-specific T cells for Clinical Applications using the Cytokine-capture System

Published on: October 5, 2015

13.0K

Main Results:

  • Cytogenetic analysis is essential for diagnosing chromosomal abnormalities in pediatric patients.
  • Understanding the usefulness and limitations of various techniques is critical.
  • Coordination between clinical assessment and laboratory results enhances diagnostic accuracy.

Conclusions:

  • The cytogenetics laboratory plays a pivotal role in pediatric diagnostics.
  • Accurate chromosome analysis, guided by clinical correlation, is necessary for effective genetic counseling.
  • Collaborative efforts between clinicians and cytogeneticists are fundamental for optimal patient care.