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Related Experiment Videos

Cri du chat-syndrome in combination with partial trisomy 9 p.

J Sigmund, H Frisch, P Heinz-Erian

    Padiatrie Und Padologie
    |January 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    A boy presented with Cri du chat syndrome and partial trisomy 9p due to a rare chromosomal translocation. This genetic anomaly was inherited from his father, a balanced translocation carrier, revealing a familial inheritance pattern.

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    Area of Science:

    • Human Genetics
    • Clinical Cytogenetics
    • Pediatric Neurology

    Background:

    • Cri du chat syndrome is caused by a deletion on the short arm of chromosome 5 (5p).
    • Partial trisomy 9p is a rare chromosomal abnormality associated with distinct clinical features.
    • Combined chromosomal aberrations can lead to complex phenotypes.