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

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...
Meiosis I03:09

Meiosis I

Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Non-LTR Retrotransposons03:18

Non-LTR Retrotransposons

As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

You might also read

Related Articles

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

Sort by
Same author

Early Versus Late Recurrence in Olfactory Neuroblastoma: A Multi-Institutional Analysis of Predictive Risk Factors.

International forum of allergy & rhinology·2026
Same author

Scoping Review of Global Kidney Genetics Clinic Models and Outcomes.

Kidney international reports·2026
Same author

Exploring fibronodular hepatocellular carcinoma: a case series investigating histopathologic and clinical characteristics and its potential association with cirrhosis.

American journal of clinical pathology·2026
Same author

A scoping review of rapid-onset climate-related disasters & gender-based violence against women.

Climate risk management·2026
Same author

Clinical and Genomic Characterization of Serratia Bloodstream Infections.

CMI communications·2026
Same author

KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

Epilepsia open·2026

Related Experiment Video

Updated: Jun 21, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Mosaic trisomy 1q: The longest surviving case.

Chirag Patel1, Graham Hardy, Phillip Cox

  • 1Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, UK. chirag.patel@bwhct.nhs.uk

American Journal of Medical Genetics. Part A
|July 18, 2009
PubMed
Summary

This study details the longest-surviving male infant with mosaic complete trisomy 1q, a rare genetic condition. Autopsy revealed previously unrecognized anomalies, highlighting the importance of thorough investigation for diagnosing trisomy 1q.

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

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Related Experiment Videos

Last Updated: Jun 21, 2026

FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

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

Chromosome Preparation From Cultured Cells
07:42

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Pathology

Background:

  • Mosaic complete trisomy 1q is a rare chromosomal abnormality with variable phenotypes.
  • Early diagnosis and characterization are crucial for understanding the condition's impact.

Observation:

  • A male infant presented with respiratory distress, micrognathia, cleft palate, limb abnormalities, and absent corpus callosum.
  • Initial blood karyotype was normal, but skin fibroblast analysis revealed a de novo unbalanced translocation: 46,XY,+1,der(1;22)(q10;q10)[25]/46,XY[65].
  • The infant survived for 5 months, with autopsy revealing additional central nervous system, cardiac, gastrointestinal, and lung anomalies.

Findings:

  • This case represents the longest known survival for mosaic complete trisomy 1q.
  • The observed phenotype, including micrognathia, dysmorphic ears, and limb anomalies, aligns with previously reported trisomy 1q cases.
  • Autopsy identified previously unrecognized systemic anomalies, expanding the known spectrum of this condition.

Implications:

  • This case expands the phenotypic spectrum of trisomy 1q and provides valuable data on long-term survival.
  • Effective interdisciplinary communication and timely post-mortem investigations (autopsy, skin biopsy) are vital for accurate diagnosis and understanding of rare genetic disorders.
  • Further research is needed to elucidate the full impact and management strategies for trisomy 1q.