Related Experiment Video

Updated: Aug 19, 2026

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

Mental retardation and congenital malformations associated with a ring chromosome 6

K Fried, M Rosenblatt, G Mundel

    Clinical Genetics
    |March 1, 1975
    PubMed

    Insights

    A boy with a ring chromosome 6 experienced developmental delays and distinctive facial features. This genetic anomaly, identified via ASG banding, highlights the phenotypic impact of chromosomal abnormalities.

    Area of Science:

    • Human Genetics
    • Clinical Dysmorphology
    • Cytogenetics

    Background:

    • Ring chromosome 6 is a rare chromosomal abnormality.
    • Associated phenotypes can include intellectual disability and characteristic facial features.
    • Understanding genotype-phenotype correlations is crucial for genetic counseling.

    Purpose of the Study:

    • To report a case of ring chromosome 6 in a male patient.
    • To describe the clinical and genetic findings.
    • To contribute to the understanding of ring chromosome 6 phenotypes.

    Main Methods:

    • Clinical examination of the patient.
    • Karyotyping using the Accredited Scientific Group (ASG) banding technique to identify the ring chromosome 6.

    Main Results:

    • Identification of a ring chromosome 6 in the affected boy.
    • Clinical presentation included mental retardation, microcephaly, bilateral epicanthus, broad nasal bridge, low-set prominent ears, short neck, and clasped thumbs.

    Conclusions:

    • Ring chromosome 6 can be associated with significant developmental and physical abnormalities.
    • The ASG banding technique is effective for identifying ring chromosomes.
    • This case adds to the spectrum of clinical features associated with ring chromosome 6.

    More Related Videos

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

    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

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene08:22

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

    Published on: September 16, 2019

    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...
    Karyotyping01:17

    Karyotyping

    Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
    Sex-linked Disorders01:43

    Sex-linked Disorders

    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.
    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...
    Meiosis I03:09

    Meiosis I

    Meiosis is the division of a diploid cell into haploid cells forming sperm and eggs in animals through differentiation. Meiosis I is the first stage of meiosis, where the genetic recombination of homologous chromosomes and the reduction of the ploidy level by half occurs.
    Prophase I is the most extended and complex step of meiosis I characterized by synapsis, chromosome pairing, and recombination of the homologous chromosomes. This process is facilitated by a proteinaceous structure called the...
    Teratogenicity01:07

    Teratogenicity

    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...