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Related Experiment Videos

Partial trisomy 16q resulting from maternal translocation.

P Balestrazzi, G Giovannelli, L Landucci Rubini

    Human Genetics
    |June 19, 1979
    PubMed
    Summary
    This summary is machine-generated.

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    This study describes a male child with partial trisomy 16q, a condition where an extra segment of chromosome 16 long arm is present. This genetic abnormality resulted from a maternal balanced translocation, impacting chromosome 16 and 22.

    Area of Science:

    • Genetics
    • Human Chromosomal Abnormalities
    • Pediatric Medicine

    Background:

    • Maternal balanced translocations can lead to unbalanced chromosomal rearrangements in offspring.
    • Understanding the genetic basis of developmental disorders is crucial for diagnosis and counseling.

    Observation:

    • A 3.5-year-old male presented with clinical features associated with chromosomal abnormalities.
    • Genetic analysis revealed a partial trisomy of the long arm of chromosome 16 (16q).

    Findings:

    • The karyotype was determined as 46,XY,--22,der(22),t(16;22)(q21;p12)mat.
    • This indicates an unbalanced translocation involving chromosomes 16 and 22, with the child having an extra segment of 16q.

    Implications:

    Related Experiment Videos

  • This case highlights the importance of detailed cytogenetic analysis in diagnosing developmental disorders.
  • Identifying the specific chromosomal rearrangement aids in genetic counseling and predicting potential recurrence risks.