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Related Experiment Videos

Translocation 4p-- syndrome: a general review.

W R Centerwall, W P Thompson, I E Allen

    American Journal of Diseases of Children (1960)
    |March 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

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    This study presents a verified case of 4p-- syndrome, a rare genetic disorder caused by a specific chromosome translocation. Advanced banding techniques confirmed the diagnosis, distinguishing it from similar conditions.

    Area of Science:

    • Genetics
    • Cytogenetics
    • Medical Diagnostics

    Background:

    • 4p-- syndrome, also known as Wolf-Hirschhorn syndrome, is a rare genetic disorder.
    • Distinguishing 4p-- syndrome from 5p-- syndrome (cri-du-chat syndrome) can be challenging using conventional chromosome studies.
    • Clinical features alone may not be sufficient for accurate differentiation.

    Observation:

    • The presented case involves a specific translocation, t(4q22q), resulting in a 4p deletion.
    • This case is identified as the first fully verified instance of translocation 4p-- syndrome (45,XX,-4,-22,+t(4q22q)).
    • Thirty-nine other cases of 4p-- syndrome are documented in medical literature, with one other possible translocation case.

    Findings:

    • Chromosome banding techniques are crucial for accurate identification of 4p-- syndrome.

    Related Experiment Videos

  • The study confirms a B4/G22 translocation as the cause of the observed 4p deletion.
  • Advanced cytogenetic analysis enabled definitive diagnosis in this complex case.

    • Implications:

    • Accurate diagnosis of 4p-- syndrome is vital for appropriate patient management and genetic counseling.
    • Improved diagnostic methods enhance our understanding of chromosomal abnormalities and their phenotypic effects.
    • This verified case contributes valuable data to the literature on rare genetic disorders and translocation syndromes.