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Related Experiment Videos

Partial trisomy 21.

S M Pueschel, T Padre-Mendoza, R Ellenbogen

    Clinical Genetics
    |November 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    This study details a patient with Down syndrome and severe intellectual disability caused by a partial trisomy 21. Genetic analysis revealed a specific chromosome translocation, highlighting the need for advanced karyotyping in suspected cases.

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    Area of Science:

    • Genetics
    • Cytogenetics
    • Human Genetics

    Background:

    • Down syndrome is a genetic disorder typically caused by trisomy 21.
    • Accurate cytogenetic analysis is crucial for diagnosing genetic disorders and understanding their underlying mechanisms.
    • Advancements in chromosome banding techniques have improved the resolution of karyotyping.

    Observation:

    • An 18.5-year-old male presented with clinical features consistent with Down syndrome and severe intellectual disability.
    • Cytogenetic analysis using Giemsa banding revealed a unique chromosomal abnormality: a translocation of the 21q21 qter segment onto the short arms of chromosome 8.
    • The karyotype was identified as 46,XY,--8, + t(8qter 8p23::21q21 21 qter).

    Findings:

    • The patient's condition was attributed to partial trisomy 21 resulting from this specific translocation.

    Related Experiment Videos

  • This case demonstrates a rare chromosomal rearrangement leading to Down syndrome phenotypes.
  • The findings underscore the complexity of chromosomal abnormalities beyond simple trisomy.

    • Implications:

    • Patients presenting with Down syndrome features, especially those with prior karyotyping before banding techniques, should be considered for repeat cytogenetic analysis.
    • Accurate diagnosis through advanced karyotyping is essential for genetic counseling and understanding prognosis.
    • This case contributes to the understanding of genotype-phenotype correlations in Down syndrome and related chromosomal disorders.