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Related Experiment Videos

Trisomy 22 in a newborn with multiple malformations.

I Voiculescu, E Back, A M Duncan

    Human Genetics
    |July 1, 1987
    PubMed
    Summary
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    A rare case of complete trisomy 22 in a live-born female infant is presented. This genetic condition, characterized by multiple malformations, is not compatible with long-term survival.

    Area of Science:

    • Genetics
    • Human Chromosome Abnormalities
    • Developmental Biology

    Background:

    • Trisomy 22, a chromosomal disorder, typically results in miscarriage.
    • Live births with trisomy 22 are exceedingly rare, often associated with severe congenital anomalies.

    Observation:

    • A live-born female infant presented with multiple malformations.
    • Karyotype analysis revealed 46 chromosomes, with a missing chromosome 22 and a supernumerary metacentric chromosome.

    Findings:

    • Advanced banding techniques and in situ hybridization confirmed the extra chromosome comprised parts of two chromosome 22s.
    • This represents a complex form of trisomy 22 mosaicism or partial trisomy.

    Implications:

    • This case provides evidence that a fetus with complete trisomy 22 can survive to term.

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  • The findings underscore the critical role of chromosomal integrity in fetal development and survival.
  • Such conditions highlight the challenges in prenatal diagnosis and management of severe chromosomal abnormalities.