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

69.5K
Overview
69.5K
Nondisjunction01:29

Nondisjunction

83.0K
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.
83.0K
Nondisjunction01:21

Nondisjunction

5.5K
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...
5.5K
Intellectual Disability01:29

Intellectual Disability

944
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
944
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

73.2K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
73.2K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

38.2K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
38.2K

You might also read

Related Articles

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

Sort by
Same author

Bridging the Functional Gap by Synergy of Exome/Genome and RNA Sequencing: A Systematic Semi-quantitative Review Demonstrating Enhanced Diagnostic Yield in Genetic Diagnostics.

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

Whole exome sequencing uncovers genetic syndromes and putative candidate genes underlying orofacial clefts presenting with limb abnormalities in a Sub-Saharan African cohort.

BMC medical genomics·2026
Same author

Molecular Response to Treatment of Chronic Myeloid Leukemia at University Teaching Hospital of Kigali, Rwanda: One-Arm Open Label Prospective Observational Study.

Cancer management and research·2026
Same author

Unlocking 3D baby face photogrammetry: Multi-view BabyMorph reconstruction from uncalibrated photographs.

Expert systems with applications·2026
Same author

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

The Journal of clinical investigation·2026
Same author

<i>OCT1</i> Variants Are Associated with Metformin Clearance and Gluconeogenesis: Mechanistic Insights for Youth-Onset Type 2 Diabetes in the MIGHTY Study.

medRxiv : the preprint server for health sciences·2026

Related Experiment Video

Updated: Mar 9, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

1.1K

Down syndrome in diverse populations.

Paul Kruszka1, Antonio R Porras2, Andrew K Sobering3

  • 1Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.

American Journal of Medical Genetics. Part A
|December 20, 2016
PubMed
Summary

This study highlights variations in Down syndrome clinical features across diverse ethnicities. Digital facial analysis technology accurately diagnosed Down syndrome, showing promise for international diagnostic applications.

Keywords:
diverse populationsdown syndromefacial analysis technologytrisomy 21

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

20.6K
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

14.4K

Related Experiment Videos

Last Updated: Mar 9, 2026

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells
06:38

In Vitro Modeling of Down Syndrome Neurogenesis Using Human-Induced Pluripotent Stem Cells

Published on: March 7, 2025

1.1K
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

20.6K
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

14.4K

Area of Science:

  • Genetics and Human Biology
  • Medical Imaging and Diagnostics

Background:

  • Down syndrome is a leading cause of cognitive impairment with recognizable clinical signs.
  • Clinical manifestations of Down syndrome can vary significantly across different ethnic populations.

Purpose of the Study:

  • To investigate the variability of Down syndrome clinical features across diverse global populations.
  • To evaluate the diagnostic accuracy of digital facial analysis technology for Down syndrome.

Main Methods:

  • Collected clinical data and photographs from 65 individuals with Down syndrome across 13 countries.
  • Utilized digital facial analysis technology on a cohort of 129 individuals with Down syndrome and 132 controls.
  • Compared facial biometric data across different ethnic groups (Africans, Asians, Latin Americans, Caucasians).

Main Results:

  • Subjective assessment revealed significant ethnic differences in clinical features like brachycephaly and ear anomalies.
  • Digital facial analysis achieved high diagnostic accuracy for Down syndrome (sensitivity 0.961, specificity 0.924, accuracy 0.943).
  • Medial canthus and ala of the nose angles were common significant digital findings across ethnicities.

Conclusions:

  • Down syndrome presents with diverse clinical features influenced by geographic populations.
  • Digital facial analysis technology demonstrates significant accuracy and potential for international Down syndrome diagnosis.