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

Incontinentia pigmenti.

T Iancu, L Komlos, F Shabtay

    Clinical Genetics
    |February 1, 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

    Cytological studies in Triton.

    Hereditas·2010
    Same author

    Equilibrium of trivalents at metaphase.

    Hereditas·2010
    Same author

    HLA-A2 class I antigens in couples with recurrent spontaneous abortions.

    International journal of immunogenetics·2007
    Same author

    CD14 receptor expression and lipopolysaccharide-induced cytokine production in preterm and term neonates.

    Biology of the neonate·2001
    Same author

    In vitro modulation of activation antigens on human lymphocytes by beta-estradiol.

    American journal of reproductive immunology (New York, N.Y. : 1989)·1999
    Same author

    Possible sex-correlated transmission of maternal class I HLA haplotypes.

    European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics·1997

    This study presents four new cases of incontinentia pigmenti, a genetic skin disorder. Researchers observed increased chromosome breakages in affected and unaffected family members, suggesting a potential genetic link.

    Area of Science:

    • Genetics
    • Dermatology
    • Cytogenetics

    Background:

    • Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder.
    • IP affects the skin, nails, hair, teeth, and central nervous system.
    • The genetic basis of IP is complex and not fully understood.

    Purpose of the Study:

    • To present four new cases of incontinentia pigmenti.
    • To investigate potential chromosomal abnormalities in affected individuals and their families.
    • To explore the genetic factors contributing to IP.

    Main Methods:

    • Clinical presentation of four new cases of incontinentia pigmenti.
    • Karyotyping and chromosome breakage analysis in blood samples.
    • Family studies to assess inheritance patterns and genetic markers.

    Related Experiment Videos

    Main Results:

    • Detailed clinical and dermatological findings for four IP patients.
    • Identification of increased chromosome breakages in blood cells of affected individuals.
    • Similar increases in chromosome breakages observed in unaffected family members, indicating a potential inherited predisposition or sensitivity.

    Conclusions:

    • The findings suggest a possible role for chromosome instability in the development or manifestation of incontinentia pigmenti.
    • Further research is warranted to elucidate the specific genetic mechanisms and environmental factors contributing to chromosome fragility in IP families.
    • This study highlights the importance of cytogenetic analysis in understanding the complex genetics of incontinentia pigmenti.