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 Experiment Videos

Derivative chromosomal structures from a ring chromsome 4.

R Niss, E Passarge

    Humangenetik
    |May 26, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

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

    Sort by
    Same author

    Multiple Y-chromosomal aberrations in a patient with mixed gonadal dysgenesis of XO/XY Type.

    Human genetics·2016
    Same author

    Sporadic translocation, inversion, and marker chromosome in prenatal diagnosis.

    Human genetics·2016
    Same author

    [TGC Repeats in Intron 2 of the TCF4 Gene have a Good Predictive Power Regarding to Fuchs Endothelial Corneal Dystrophy].

    Klinische Monatsblatter fur Augenheilkunde·2015
    Same author

    [Enzyme histochemistry of classical and ultrashort Hirschsprung's disease].

    Der Pathologe·2007
    Same author

    [Genetic bases of Hirschsprung's disease].

    Der Pathologe·2007
    Same author

    Uniparental isodisomy for paternal 2p and maternal 2q in a phenotypically normal female with two isochromosomes, i(2p) and i(2q).

    Journal of medical genetics·2001
    Same journal

    DNA replication patterns of human C group chromosomes from fibroblasts and amniotic fluid cells revealed by a Giemsa staining technique.

    Humangenetik·1975
    Same journal

    Cytological and cytogenetical studies on brain tumors. VI. No evidence for a translocation in 22-monosomic meningiomas.

    Humangenetik·1975
    Same journal

    Climate associated variations in the human serum albumin level.

    Humangenetik·1975
    Same journal

    A technique for in situ karyotyping of primary amniotic fluid cell cultures.

    Humangenetik·1975
    Same journal

    Sister chromatid exchanges and chromatid interchanges in bloom's syndrome.

    Humangenetik·1975
    Same journal

    Trisomy 9p due to paternal translocation, t(9;13) (q13;q12).

    Humangenetik·1975
    See all related articles

    This study details a rare ring chromosome 4 in lymphocytes, observing complex derivative structures. The individual

    Area of Science:

    • Cytogenetics
    • Human Genetics
    • Chromosomal Abnormalities

    Background:

    • Ring chromosomes are rare structural abnormalities.
    • Ring chromosome 4 (r(4)) is exceptionally uncommon.
    • Understanding r(4) is crucial for genetic counseling and diagnosis.

    Purpose of the Study:

    • To characterize the cytogenetic findings in an individual with a ring chromosome 4.
    • To investigate the morphology and behavior of the ring chromosome 4 during cell division.
    • To correlate cytogenetic findings with the clinical presentation.

    Main Methods:

    • Cultured lymphocytes were analyzed at metaphase, anaphase, and interphase.
    • Karyotyping and high-resolution microscopy were employed.
    • Detailed morphological analysis of chromosomal structures was performed.

    Related Experiment Videos

    Main Results:

    • A ring chromosome 4 was detected in 90.1% of metaphase cells.
    • Various complex derivative chromosomal structures were observed, including duplicated/triplicated rings, tricentric rings, interlocked rings, and pulverized rings.
    • The individual presented with a constellation of features including short stature, impaired mental development, hypoplastic thumbs, ptosis palpebrae, hypoplastic external male genitalia, and an abnormal dermatoglyphic pattern.

    Conclusions:

    • The study highlights the complex structural variations associated with ring chromosome 4.
    • The observed clinical features did not align with a distinct phenotype for r(4).
    • Further research is needed to establish genotype-phenotype correlations for ring chromosome 4.