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

Overview
Karyotyping01:17

Karyotyping

Overview
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

You might also read

Related Articles

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

Sort by
Same author

A role for <i>EHMT2</i> in a novel autosomal recessive neurodevelopmental syndrome? A case report.

Frontiers in genetics·2026
Same author

Response to Wojcik and Fraiman.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

The Hidden Architecture of Brain Structural Variability in 22q11.2 Deletion Syndrome: A Multi-site Study.

medRxiv : the preprint server for health sciences·2026
Same author

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

medRxiv : the preprint server for health sciences·2026
Same author

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature.

American journal of medical genetics. Part A·2026
Same author

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: May 28, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Mosaic trisomy 17: variable clinical and cytogenetic presentation.

Robert Daber1, Kimberly A Chapman, Eduardo Ruchelli

  • 1Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, PA, USA.

American Journal of Medical Genetics. Part A
|October 15, 2011
PubMed
Summary

Mosaic trisomy 17 is a rare genetic condition with variable symptoms. Diagnosis can be missed in blood tests, as shown in two cases where it was found in skin cells but not blood.

More Related Videos

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
09:45

Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis

Published on: March 31, 2015

Related Experiment Videos

Last Updated: May 28, 2026

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
11:54

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues

Published on: October 20, 2019

Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
09:45

Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis

Published on: March 31, 2015

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Diagnostics

Background:

  • Mosaic trisomy 17 is a rare chromosomal abnormality with a highly variable clinical presentation.
  • Prenatal diagnosis is often achieved via karyotype, but postnatal confirmation in blood lymphocytes can be normal.

Observation:

  • Two cases of prenatally diagnosed mosaic trisomy 17 are presented, with postnatal tissue analysis.
  • In one case, trisomy 17 was detected in skin fibroblasts but not peripheral blood.
  • In the second case, trisomy 17 was identified prenatally, but subsequent analysis of blood, buccal mucosa, and skin was negative.

Findings:

  • Mosaic trisomy 17 can be present in specific tissues (e.g., skin fibroblasts) even when absent in peripheral blood.
  • Standard postnatal diagnostic methods may fail to detect mosaic trisomy 17 in all tissues.
  • The study highlights diagnostic challenges and the potential for trisomy 17 to affect specific tissues crucial for development.

Implications:

  • These findings underscore the limitations of relying solely on blood analysis for diagnosing mosaic trisomy 17.
  • Further research into tissue-specific aneuploidy detection is warranted for accurate diagnosis and understanding of associated anomalies.
  • Improved diagnostic strategies are needed to identify mosaic trisomy 17 and its impact on congenital conditions.