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

Mosaic trisomy 9: two additional cases

M R Tropp, M Currie

    Human Genetics
    |September 22, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Mosaic trisomy 9, a rare chromosomal abnormality, was identified in two unrelated female patients. This condition, characterized by an extra chromosome 9, presented with distinct clinical features and varying severity in affected individuals.

    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

    Comparison of multi-institutional pre-treatment verification for VMAT of nasopharynx with delivery errors.

    Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB)·2018
    Same author

    Optical polarization of excitons and trions under continuous and pulsed excitation in single layers of WSe<sub>2</sub>.

    Nanoscale·2017
    Same author

    Optical polarization and intervalley scattering in single layers of MoS2 and MoSe2.

    Scientific reports·2016
    Same author

    Anomalous temperature-dependent spin-valley polarization in monolayer WS2.

    Scientific reports·2016
    Same author

    Evaluation of physician assistants in National Health Service Scotland.

    Scottish medical journal·2011
    Same author

    Report of a Case of Addison's Disease Treated with Benefit by a Suprarenal Transplant.

    Canadian Medical Association journal·2010
    Same journal

    A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

    Human genetics·2026
    Same journal

    Blending borders: reconstructing the genetic history of the Sindhi population.

    Human genetics·2026
    Same journal

    Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

    Human genetics·2026
    Same journal

    Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

    Human genetics·2026
    Same journal

    A genetic variant of adenylate cyclase 7 associated with ulcerative colitis shows impaired function and G-protein-coupled receptor signaling.

    Human genetics·2026
    Same journal

    AI in variant analysis: fast track to genetic diagnoses.

    Human genetics·2026
    See all related articles

    Area of Science:

    • Genetics
    • Human genetics
    • Chromosomal abnormalities

    Background:

    • Mosaic trisomy 9 is a rare chromosomal condition where some cells have an extra copy of chromosome 9.
    • Understanding the phenotypic variability is crucial for genetic counseling and clinical management.

    Observation:

    • Two unrelated female patients presented with mosaic trisomy 9 (46,XX/47,XX,+9).
    • The first patient exhibited dysmorphic features including a prominent nose, deep-set eyes, carp-shaped mouth, and complex congenital cardiac anomalies, leading to death at 10 days.
    • The second patient, a 7.5-year-old female, presented with persistent alacrimia and mental retardation.

    Findings:

    • The study highlights the variable expressivity of mosaic trisomy 9.
    • Clinical manifestations ranged from severe congenital anomalies and early mortality to intellectual disability and specific functional deficits.

    Related Experiment Videos

    Implications:

    • This case series underscores the importance of cytogenetic analysis in diagnosing unexplained congenital anomalies and developmental delays.
    • Further research into the genetic and epigenetic factors influencing the phenotype of mosaic trisomy 9 is warranted.
    • Accurate diagnosis aids in prognosis, genetic counseling, and tailored patient management strategies.