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8p trisomy in a malformed foetus

J P Fryns, P Petit, F Moerman

    Annales De Genetique
    |January 1, 1982
    PubMed
    Summary
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    A fetus with trisomy 8p, resulting from a maternal translocation, exhibited multiple internal malformations and a neuroblastoma in situ. This case explores the potential link between chromosomal abnormalities and neuroblastoma development.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Pediatric Pathology

    Background:

    • Maternal chromosomal translocations can lead to unbalanced chromosomal products in offspring.
    • Trisomy 8p is a rare chromosomal abnormality associated with developmental issues.
    • Neuroblastoma is a common pediatric cancer originating from neural crest cells.

    Observation:

    • A 20-week-old fetus presented with trisomy 8p due to a maternal 7q/8p translocation.
    • Internal malformations included gallbladder agenesis, left heart hypoplasia, and pancreas annulare.
    • Histologic examination revealed a "neuroblastoma in situ".

    Findings:

    • The fetus exhibited a complex set of congenital anomalies linked to the 8p trisomy.
    • The presence of a neuroblastoma in situ suggests a potential role for chromosomal imbalance in its early development.

    Related Experiment Videos

  • This case highlights the phenotypic variability associated with 8p trisomy.

    • Implications:

    • This case provides insights into the potential oncogenic effects of specific chromosomal abnormalities.
    • Understanding the link between trisomy 8p and neuroblastoma may aid in early diagnosis and risk assessment.
    • Further research is warranted to elucidate the mechanisms connecting chromosomal aberrations and neuroblastoma pathogenesis.