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

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,...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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.
Nondisjunction01:21

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...
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...

You might also read

Related Articles

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

Sort by
Same author

Acute Non-Traumatic Urinary Tract Emergencies: The Central Role of CT Imaging and the Emerging Role of Photon-Counting CT.

Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes·2026
Same author

Bone involvement in sarcoidosis: Insights from a multicentre Italian cohort.

Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG·2026
Same author

Development of a Radiologic Nomogram to Predict Invasiveness in Pulmonary Pure Ground-Glass Opacities: Analysis of the GORDON Cohort.

Cancers·2026
Same author

Reduced Clinical Target Volume Margins in Glioblastoma: Exploratory Evidence Supporting Further Margin Reduction Independent of MGMT Status.

Brain sciences·2026
Same author

Diagnostic Accuracy of Dual Energy CT for Bone Marrow Edema of the Sacroiliac Joints Compared with MRI: A Systematic Review.

Journal of clinical medicine·2026
Same author

When BAL meets CT scan: enhancing noninvasive diagnosis of acute cellular rejection after lung transplantation.

BMC pulmonary medicine·2026
Same journal

Assessing Sudden Unexpected Death in Epilepsy (SUDEP), Mortality, and Suicide in Pediatric Epilepsy from the lens of Healthcare Disparities: Data From a Scoping Review.

Journal of child neurology·2026
Same journal

The Importance of Accessible, Patient-Focused Language in the Age of the Electronic Medical Record.

Journal of child neurology·2026
Same journal

Genetic Etiologies and Risk Factors for Regressive Autism and Childhood Disintegrative Disorder: A Scoping Review.

Journal of child neurology·2026
Same journal

Birmingham, 1963.

Journal of child neurology·2026
Same journal

Hyperintensity on Diffusion-Weighted Imaging in a MELAS Patient Does Not Necessarily Mean Cytotoxic Edema.

Journal of child neurology·2026
Same journal

Neuromuscular Symptoms of <i>ORAI1</i>-Related Immunodeficiency.

Journal of child neurology·2026
See all related articles

Related Experiment Video

Updated: Jul 8, 2026

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

Polydactyly with ectodermal defect, osteopenia, and mental delay.

Raffaella Zannolli1, Sabrina Buoni, Massimo Viviano

  • 1Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it

Journal of Child Neurology
|January 10, 2008
PubMed
Summary
This summary is machine-generated.

This study describes a family with postaxial polydactyly exhibiting variable symptoms like syndactyly and osteopenia, likely due to a contiguous gene syndrome affecting multiple physiological activities.

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

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

Related Experiment Videos

Last Updated: Jul 8, 2026

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

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

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
10:23

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Autosomal dominant inheritance patterns are crucial in understanding genetic disorders.
  • Phenotypic variability within families poses diagnostic challenges.

Observation:

  • A three-generation family presented with postaxial polydactyly (A and B types).
  • Affected individuals displayed a range of features including cutaneous syndactyly, nail-teeth dysplasia, osteopenia, and varying degrees of mental delay.

Findings:

  • Postaxial polydactyly was associated with significant phenotypic heterogeneity.
  • The observed constellation of symptoms suggests a potential contiguous gene syndrome rather than a single gene mutation affecting multiple pathways.

Implications:

  • Understanding contiguous gene syndromes is vital for accurate genetic diagnosis and counseling.
  • Further research is needed to confirm the genetic basis and molecular mechanisms underlying this condition.