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Partial trisomy 16q-

E Yunis, J T González, O M Torres de Caballero

    Human Genetics
    |October 14, 1977
    PubMed
    Summary
    This summary is machine-generated.

    This study reports the first liveborn infant diagnosed with trisomy 16q-, a rare chromosome abnormality. The condition arose from the mother

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    Area of Science:

    • Genetics
    • Human Chromosome Abnormalities
    • Reproductive Genetics

    Background:

    • Balanced translocations can lead to unbalanced chromosomal rearrangements in offspring.
    • Maternal carrier status of a balanced translocation t(15;16) was identified.

    Observation:

    • A 5-month-old female infant presented with a trisomy 16q- chromosome abnormality.
    • The infant's karyotype indicated an extra copy of a segment of chromosome 16.

    Findings:

    • This is the first documented case of a liveborn infant with trisomy 16q-.
    • The specific translocation involved breakpoints at 15p12 and 16q11.

    Implications:

    • Highlights the importance of genetic counseling for carriers of balanced translocations.
    • Contributes to the understanding of rare chromosomal disorders and their inheritance patterns.
    • Provides a basis for further research into the clinical spectrum of trisomy 16q-.