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Related Experiment Videos

Trisomy 22.

H Zellweger, V Ionasescu, J Simpson

    Journal De Genetique Humaine
    |March 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 22, though rare, may encompass conditions like Cat Eye Syndrome, suggesting a spectrum of related genetic disorders. Further research is needed to understand its familial patterns.

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    Area of Science:

    • Genetics
    • Cytogenetics
    • Medical Genetics

    Background:

    • Trisomy 22 is a rare chromosomal abnormality, distinct from the more common Trisomy 21.
    • Karyotype analysis advancements allow precise identification of chromosome G group abnormalities.

    Purpose of the Study:

    • To present evidence suggesting Cat Eye Syndrome (CES), Trisomy 22 (T22), intermediate cases (IM), and some non-specific mental retardation are variants of a single disease entity.
    • To investigate the chromosomal basis and familial incidence of these conditions.

    Main Methods:

    • Advanced karyotype analysis to distinguish acrocentric chromosomes.
    • Identification of the extra chromosome in affected individuals.

    Main Results:

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  • Presumptive evidence links CES, T22, IM, and certain mental retardation cases as variants of the same condition.
  • The extra chromosome in T22 and CES was identified as chromosome 22, sometimes with partial long arm deletion.
  • Familial incidence of Trisomy 22 is noted as a significant feature.

    • Conclusions:

    • Cat Eye Syndrome and Trisomy 22 may represent a spectrum of disorders related to an extra chromosome 22.
    • The frequent familial occurrence of Trisomy 22 warrants further investigation into its genetic transmission.