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Related Experiment Videos

Partial trisomy 14q.

I Lopez Pajares, A Delicado, P V Cobos

    Human Genetics
    |January 25, 1979
    PubMed
    Summary
    This summary is machine-generated.

    A female infant presented with partial trisomy 14, characterized by an extra, altered chromosome 14. This genetic anomaly, identified as 47,XX,+del 14(q24), was not inherited from her parents.

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    Area of Science:

    • Human Genetics
    • Cytogenetics
    • Medical Genetics

    Background:

    • Genetic disorders can arise from chromosomal abnormalities, impacting development and physical characteristics.
    • Partial trisomies, involving extra segments of chromosomes, are a known cause of congenital anomalies.
    • Chromosome 14 abnormalities, while less common, can lead to distinct phenotypic presentations.

    Observation:

    • A female infant was diagnosed with 47 chromosomes, including an extra acrocentric chromosome.
    • The additional chromosome was characterized as smaller than D group chromosomes but larger than G group chromosomes.
    • GTG banding analysis revealed the extra chromosome to be a deleted chromosome 14, specifically del(14q24).

    Findings:

    • The patient's karyotype was determined to be 47,XX,+del 14(q24), indicating partial trisomy of chromosome 14.

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  • The dysmorphic features observed in the infant were associated with this specific chromosomal deletion and duplication.
  • Parental chromosome analysis confirmed normal karyotypes, suggesting the chromosomal abnormality was de novo.

    • Implications:

    • This case highlights the importance of detailed cytogenetic analysis, including GTG banding, for diagnosing complex chromosomal rearrangements.
    • Understanding the specific breakpoints (14q24) in partial trisomy 14 is crucial for correlating genotype with phenotype.
    • The findings contribute to the understanding of the phenotypic consequences of chromosome 14 duplications and deletions in humans.