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Related Experiment Videos

Partial trisomy 9q: a new syndrome.

C Turleau, J de Grouchy, F Chavin-Colin

    Humangenetik
    |September 23, 1975
    PubMed
    Summary
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    Two patients presented with similar genetic disorders, exhibiting partial trisomy for chromosome 9q. This finding suggests a new syndrome linked to the 9q31q32 region, impacting development and physical features.

    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • Partial trisomies of chromosome 9 can lead to various developmental abnormalities.
    • Distinct phenotypes associated with chromosomal abnormalities are crucial for diagnosis.

    Purpose of the Study:

    • To identify and characterize a potential new genetic syndrome in two unrelated patients.
    • To investigate the specific chromosomal region responsible for the observed phenotype.

    Main Methods:

    • Clinical examination of patients.
    • Karyotyping and molecular cytogenetic analysis to determine chromosomal abnormalities.

    Main Results:

    • Both patients exhibited a similar phenotype including low birth weight, developmental delay, and distinct facial features.

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  • Partial trisomy for different segments of 9q was identified in both patients.
  • A common trisomic segment, 9q31q32, was found in both individuals.

    • Conclusions:

    • The shared trisomic segment 9q31q32 likely represents a critical region responsible for the observed syndrome.
    • This finding expands the understanding of trisomy 9 phenotypes and suggests a new distinct syndrome.