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

Ullrich-Noonan syndrome

B W Johansson, N Mandahl

    Acta Medica Scandinavica
    |January 1, 1980
    PubMed
    Summary

    This case study presents Ullrich-Noonan syndrome, a rare genetic disorder. Detailed chromosomal analysis revealed no significant anomalies, highlighting diagnostic challenges.

    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

    Cytogenetic findings in pediatric germ-cell tumors.

    International journal of oncology·2011
    Same author

    Nonrandom secondary chromosome-aberrations in synovial sarcomas with t(x-18).

    International journal of oncology·2011
    Same author

    Telomeric associations correlate with telomere length reduction and clonal chromosome aberrations in giant cell tumor of bone.

    Cytogenetic and genome research·2009
    Same author

    POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.

    The Journal of pathology·2008
    Same author

    Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation.

    British journal of cancer·2007
    Same author

    Genetic intratumour heterogeneity in high-grade brain tumours is associated with telomere-dependent mitotic instability.

    Neuropathology and applied neurobiology·2007

    Area of Science:

    • Genetics
    • Pediatrics
    • Clinical Medicine

    Background:

    • Ullrich-Noonan syndrome is a rare genetic disorder with variable expressivity.
    • Diagnosis can be challenging due to overlapping features with other conditions.

    Observation:

    • A case of Ullrich-Noonan syndrome is presented with characteristic features including pulmonary stenosis, epicanthus, ptosis, short stature, and curved tibia.
    • The patient exhibited positive sex chromatin and a diploid chromosome number.

    Findings:

    • Comprehensive chromosomal banding analysis (G-staining, C-staining, Ag-I-staining) did not reveal significant chromosomal anomalies.
    • This suggests that chromosomal abnormalities may not be detectable by standard banding techniques in all Ullrich-Noonan syndrome cases.

    Implications:

    • The findings underscore the importance of integrating clinical findings with genetic analysis for accurate Ullrich-Noonan syndrome diagnosis.
    • Further research into the genetic underpinnings of Ullrich-Noonan syndrome is warranted.
    • This case contributes to the understanding of diagnostic criteria and the genetic basis of Ullrich-Noonan syndrome.

    Related Experiment Videos