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

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

30.2K
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...
30.2K
Sex-linked Disorders01:43

Sex-linked Disorders

94.2K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
94.2K
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

39.5K
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...
39.5K
Teratogenicity01:07

Teratogenicity

4.2K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.2K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.1K
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...
1.1K
Meiosis I01:49

Meiosis I

176.6K
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...
176.6K

You might also read

Related Articles

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

Sort by
Same author

Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings.

Frontiers in neurology·2026
Same author

Postoperative electroencephalographic anterior asymmetry is associated with neurologic injury and increased morbidity.

JTCVS open·2025
Same author

Long-term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3-year results from the cannabidiol expanded access program.

Epilepsia open·2024
Same author

Clinical and functional consequences of GRIA variants in patients with neurological diseases.

Cellular and molecular life sciences : CMLS·2023
Same author

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

Annals of clinical and translational neurology·2022
Same author

A diagnostic confidence scheme for CLN3 disease.

Journal of inherited metabolic disease·2021

Related Experiment Video

Updated: Apr 29, 2026

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

7.9K

Genetic disorders associated with postnatal microcephaly.

Laurie E Seltzer, Alex R Paciorkowski

    American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
    |May 20, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Several genetic disorders cause postnatal microcephaly, impacting brain development. These conditions, linked to gene expression and synaptic genes, present with distinct neurodevelopmental and neurobehavioral abnormalities.

    Keywords:
    Angelman syndromeCASKCDKL5Christianson syndromeFOXG1MECP2-related disorderPitt-Hopkins syndromeRubinstein-Taybi syndromeWarburg MICRO syndrome, Cockayne syndrome, Cerebral-oculo-facial skeletal syndromepostnatal microcephaly

    More Related Videos

    Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult
    09:39

    Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult

    Published on: April 26, 2018

    8.1K
    Hypoxia Alters miRNAs Levels Involved in Non-Mendelian Inheritance of Autism Spectrum Disorder in Mice
    09:13

    Hypoxia Alters miRNAs Levels Involved in Non-Mendelian Inheritance of Autism Spectrum Disorder in Mice

    Published on: July 11, 2025

    26.8K

    Related Experiment Videos

    Last Updated: Apr 29, 2026

    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

    7.9K
    Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult
    09:39

    Establishing Mouse Models for Zika Virus-induced Neurological Disorders Using Intracerebral Injection Strategies: Embryonic, Neonatal, and Adult

    Published on: April 26, 2018

    8.1K
    Hypoxia Alters miRNAs Levels Involved in Non-Mendelian Inheritance of Autism Spectrum Disorder in Mice
    09:13

    Hypoxia Alters miRNAs Levels Involved in Non-Mendelian Inheritance of Autism Spectrum Disorder in Mice

    Published on: July 11, 2025

    26.8K

    Area of Science:

    • Genetics
    • Neuroscience
    • Developmental Biology

    Background:

    • Postnatal microcephaly, characterized by normal head size at birth followed by decelerated head growth, is a feature of several genetic disorders.
    • These include Angelman syndrome, MECP2-related disorder, and syndromes associated with mutations in CASK, CDKL5, CREBBP, EP300, FOXG1, SLC9A6, and TCF4.

    Purpose of the Study:

    • To identify and categorize genetic disorders characterized by postnatal microcephaly.
    • To highlight the clinical features and genetic underpinnings of these emerging diagnostic entities.

    Main Methods:

    • Clinical phenotyping across neurodevelopmental and neurobehavioral domains.
    • Review of existing data on genetic mutations and associated syndromes.

    Main Results:

    • Postnatal microcephaly disorders can be clinically identified and recognized as distinct diagnostic entities.
    • A second group of syndromes (Warburg MICRO, Cockayne, Cerebral-oculo-facial skeletal) share features of somatic growth failure, ophthalmologic, and dysmorphologic abnormalities.
    • Many of these syndromes result from mutations in genes regulating forebrain and hindbrain gene expression, as well as synaptic structural genes.

    Conclusions:

    • Postnatal microcephaly syndromes represent an emerging group of disorders with complex neurodevelopmental and neurobehavioral abnormalities.
    • These conditions are often caused by genetic mutations affecting gene expression or synaptic structure.
    • Further research is needed to fully understand the spectrum and mechanisms of these disorders.