Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Karyotyping

Karyotyping

Chromosomal Theory of Inheritance

Chromosomal Theory of Inheritance

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.”

Nondisjunction

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.

Karyotyping

Karyotyping

Nondisjunction

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.

Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

You might also read

Related Articles

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

Sort by

Same author

Evolution of fragile X syndrome and neurodevelopmental disorders research: a Scopus-based bibliometric analysis.

Journal of Yeungnam medical science·2026

Same author

Clinical and Molecular Characteristics of Children with Beckwith-Wiedemann Syndrome and Isolated Hemi Hyperplasia at Sultan Qaboos University Hospital with Their Surveillance Outcomes.

Oman medical journal·2026

Same author

360° phototherapy versus single-surface LED phototherapy with white curtains in neonatal hyperbilirubinaemia: a randomised controlled trial.

Singapore medical journal·2026

Same author

Impact of an Oral Nutrition Supplement on the Nutritional Status of Stunted and At-Risk of Stunting Children: A Community-Based Intervention Trial.

Nutrients·2026

Same author

Daycare-simulated interrupted phototherapy for neonatal jaundice: a randomized controlled trial.

European journal of pediatrics·2026

Same author

Thyrotoxic Hypokalemic Periodic Paralysis: Pathophysiological Mechanisms.

Endocrinology and metabolism (Seoul, Korea)·2025

Search research articles

Related Experiment Video

Updated: May 30, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases.

Ravindran Ankathil^1,2,3, Wan Nur Amalina Zakaria³, Mohd Ridzuan Hamid³

¹Department of Cytogenetics and Genomics, Jubilee Centre for Medical Research, Jubilee Mission Medical College and Research Institute, Thrissur, IND.

|October 3, 2024

Summary

Rare chromosomal rearrangements involving chromosomes 6 and 14 can cause genetic disorders. Parental karyotyping is vital for diagnosing causes of recurrent miscarriages and guiding reproductive choices.

Keywords:

abnormal chromosomes congenital abnormalities rare translocation tertiary trisomy translocations 6 & 14

More Related Videos

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

Chromosome Preparation From Cultured Cells

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Related Experiment Videos

Last Updated: May 30, 2026

FISH for Pre-implantation Genetic Diagnosis

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay

Published on: February 6, 2012

Chromosome Preparation From Cultured Cells

Chromosome Preparation From Cultured Cells

Published on: January 28, 2014

Area of Science:

Human Genetics
Cytogenetics
Reproductive Medicine

Background:

Chromosomal rearrangements, such as translocations, can disrupt gene function and lead to congenital anomalies and reproductive issues.
Identifying breakpoints in chromosomal rearrangements is key to locating disease-related genes.

Observation:

Case 1: A girl with hearing impairment inherited a balanced translocation between chromosomes 6 and 14 from her father.
Case 2: A dysmorphic infant presented with congenital bilateral choanal atresia and tertiary trisomy due to a translocation between chromosomes 6 and 14, resulting in an extra derivative chromosome (14). The mother had a history of recurrent miscarriages.

Findings:

The study highlights two uncommon cases of chromosomal rearrangement involving chromosome 6 (6p24-25) and chromosome 14 (14q22-23).
The origin of the tertiary trisomy in the second case could not be determined due to parental non-consent for karyotyping.

Implications:

Parental karyotyping and chromosomal analysis are essential for investigating recurrent miscarriages.
Genetic analysis aids in identifying disease-related genes, guiding reproductive decisions, and improving pregnancy outcomes for couples experiencing recurrent pregnancy loss.