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

Trisomy 21: rate in second-degree relatives.

D L Eunpu, D M McDonald, E H Zackai

    American Journal of Medical Genetics
    |October 1, 1986
    PubMed
    Summary

    The recurrence risk for Down syndrome (trisomy 21) in siblings remains 1%. However, the study found no increased rate in second-degree relatives, suggesting amniocentesis is not warranted for them.

    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

    Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.

    Journal of intellectual disability research : JIDR·2024
    Same author

    Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.

    AJNR. American journal of neuroradiology·2018
    Same author

    Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome.

    Translational psychiatry·2017
    Same author

    Systemically-Based Psychotherapeutic Techniques in Genetic Counseling.

    Journal of genetic counseling·2015
    Same author

    Generations Lost: A Cancer Genetics Case Report Commentary.

    Journal of genetic counseling·2015
    Same author

    Incidental radiologic findings in the 22q11.2 deletion syndrome.

    AJNR. American journal of neuroradiology·2014

    Area of Science:

    • Genetics
    • Reproductive Health
    • Medical Genetics

    Background:

    • The recurrence risk for trisomy 21 (Down syndrome) in offspring following one affected child is approximately 1%.
    • The trisomy 21 rate in second- and third-degree relatives is not well-established.
    • Previous studies suggested a potential increase in risk for relatives, prompting further investigation.

    Purpose of the Study:

    • To determine the rate of trisomy 21 in second-degree relatives of individuals with Down syndrome.
    • To evaluate whether the risk warrants routine discussion of amniocentesis for this group.

    Main Methods:

    • Extensive family histories were collected from 141 families with a trisomy 21 proband.
    • The incidence of trisomy 21 in siblings (first-degree relatives) and aunts/uncles (second-degree relatives) was ascertained.
    • Data were compared to established recurrence risks and control group rates.

    Main Results:

    • The recurrence rate for siblings of trisomy 21 probands was confirmed at approximately 1%.
    • No cases of trisomy 21 were identified among the aunts and uncles (second-degree relatives) studied.
    • The observed rate in second-degree relatives did not show a significant increase compared to the general population.

    Conclusions:

    • The rate of trisomy 21 in second-degree relatives does not appear to be significantly elevated.
    • Routine discussion of amniocentesis for second-degree relatives of individuals with Down syndrome is not indicated based on these findings.

    Related Experiment Videos