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...
Nondisjunction01:21

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...
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.
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.
Karyotyping01:17

Karyotyping

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

You might also read

Related Articles

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

Sort by
Same author

Phytochemical profiling and anti-obesity effects of <i>Eclipta alba</i> (L.) Hassk. powder in diet-Induced obese zebrafish model.

3 Biotech·2026
Same author

Exploring genotype-phenotype correlation of FSHR polymorphisms in polycystic ovary syndrome.

BMC endocrine disorders·2025
Same author

Investigating the Impact of <i>GNRH1</i> Polymorphism rs6185 in Women with Polycystic Ovary Syndrome through Association Study, Meta analysis and <i>In silico</i> Study.

Journal of human reproductive sciences·2025
Same author

Toxicological assessment of diphenyl ether using adult zebrafish and human lymphocytes: Biochemical, genotoxic, cytotoxic, histopathological and ultrastructural analysis.

Toxicology and applied pharmacology·2025
Same author

Genetic association between LHCGR variants and polycystic ovary syndrome: a meta-analysis.

Journal of assisted reproduction and genetics·2025
Same author

Structural changes in amide I and amide II regions of PCOS women analyzed by ATR-FTIR spectroscopy.

Heliyon·2024

Related Experiment Video

Updated: May 7, 2026

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
09:40

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9

Published on: January 3, 2015

3p deletion syndrome.

Anupam Kaur1, S Khetarpal

  • 1Department of Human Genetics, Guru Nanak Dev University; and , *39-C, Circular Road; Amritsar, Punjab, India. Correspondence to: Dr Anupam Kaur, Reader, Human Genetics, Guru Nanak Dev University Amritsar, Punjab 143 005, India. anupamkaur@yahoo.co.in.

Indian Pediatrics
|September 17, 2013
PubMed
Summary

A rare 3p deletion genetic condition caused congenital malformations in a male infant. This case uniquely presented with previously unreported wrist and elbow flexion deformities.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • 3p deletion syndrome is a rare chromosomal abnormality.
  • It is associated with various congenital malformations.
  • The specific genetic locus del(3)(p25-pter) requires detailed characterization.

Observation:

  • A 3-month-old male infant presented with multiple congenital malformations.
  • The infant's karyotype confirmed a 3p deletion: 46,XY,del(3)(p25-pter).
  • Unique clinical features included flexion deformities of the wrist and elbow.

Findings:

  • The karyotype confirmed a terminal deletion on the short arm of chromosome 3.
  • The identified deletion spans the 3p25-pter region.
  • Congenital malformations, including previously undocumented wrist and elbow flexion deformities, were observed.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: May 7, 2026

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9
09:40

Generation of Genomic Deletions in Mammalian Cell Lines via CRISPR/Cas9

Published on: January 3, 2015

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Implications:

  • This case expands the known clinical spectrum of 3p deletion syndrome.
  • It highlights the importance of detailed cytogenetic analysis in infants with congenital anomalies.
  • Further research is needed to understand the genotype-phenotype correlation for 3p deletions, particularly regarding limb development.