Related Experiment Video

Updated: May 2, 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

17p13.3 microduplication, a potential novel genetic locus for nonsyndromic bilateral cleft lip and palate

Rita M Ibitoye, Joanna Roberts, Tim Goodacre

    The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
    |March 15, 2014
    PubMed

    Keywords:
    bilateral cleft lip and palatechromosome 17p13.3cleft lip and palategeneticinheritedmicroduplicationnonsyndromic

    More Related Videos

    Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

    Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

    Published on: February 21, 2015

    19.4K
    Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans10:23

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

    Published on: September 8, 2023

    4.0K

    Related Concept Videos

    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...
    30.2K
    Karyotyping01:17

    Karyotyping

    Overview
    49.3K
    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,...
    31.2K
    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...
    176.7K
    Comparing Copy Number Variations and SNPs02:26

    Comparing Copy Number Variations and SNPs

    Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
    Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
    11.6K
    Lampbrush Chromosomes01:51

    Lampbrush Chromosomes

    In 1882, Flemming observed lampbrush chromosomes (LBC) in salamander eggs. Later in 1892, Rückert observed LBCs in shark egg cells and coined the term "lampbrush chromosomes" because they looked like brushes used to clean kerosene lamps.
    LBCs are made up of two pairs of conjugating homologous chromatids. Each chromatid consists of alternatively positioned regions of condensed-inactive chromatin and loosely placed-active side loops, which can be contracted and extended. The loops...
    7.1K