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The 12p trisomy syndrome.

S Armendares, F Salamanca, S Nava

    Annales De Genetique
    |June 1, 1975
    PubMed
    Summary
    This summary is machine-generated.

    Trisomy 12p in a girl with congenital defects resulted from maternal translocation segregation. This identified a new syndrome with severe intellectual disability and distinct facial and physical features.

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    Area of Science:

    • Genetics
    • Clinical Medicine
    • Developmental Biology

    Background:

    • A balanced translocation t(12;21) was identified in the mother and two sisters.
    • The affected child presented with multiple congenital anomalies.

    Observation:

    • Karyotype analysis revealed trisomy for the short arm of chromosome 12 (12p) in the affected girl.
    • Phenotypic features included severe mental retardation, characteristic facial dysmorphia, hypotonia, and skeletal abnormalities.

    Findings:

    • The affected girl's karyotype was 46,XX,der21,rcp(12;12)(p11;q11)mat, indicating maternal adjacent-1 meiotic segregation.
    • A sibling with similar features, though unkaryotyped, suggests a familial pattern.

    Implications:

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  • This case report aids in the individualization of a new syndrome associated with trisomy 12p.
  • Further research can elucidate the specific genes on 12p responsible for these developmental abnormalities.