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[Roberts-SC phocomelia syndrome].

P Baggio, R Danda, G Audino

    La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
    |January 1, 1986
    PubMed
    Summary
    This summary is machine-generated.

    Roberts syndrome and SC phocomelia syndrome are often considered a single condition due to shared features and a common chromosomal abnormality involving premature centromere splitting. This report reviews key characteristics and presents a neonatal case diagnosis.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Roberts syndrome and SC phocomelia syndrome are rare congenital malformation disorders.
    • These syndromes share significant clinical and genetic overlap, often leading to their classification as a single entity.
    • A common underlying mechanism involves premature centromere splitting during cell division (prometaphase).