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New chromosomal dysmorphic syndromes. 4. Trisomy 12p

S Stengel-Rutkowski, A Albert, J D Murken

    European Journal of Pediatrics
    |July 1, 1981
    PubMed
    Summary

    Maternal translocation can cause trisomy 12p, a syndrome with severe developmental delays and distinct craniofacial anomalies. Genetic analysis helps define risks associated with this chromosomal imbalance.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Balanced maternal translocations can result in offspring with chromosomal abnormalities.
    • Trisomy 12p is a rare condition with significant clinical implications.

    Purpose of the Study:

    • To describe a phenotypically defined syndrome caused by trisomy 12p.
    • To identify characteristic craniofacial anomalies associated with trisomy 12p.
    • To analyze cytogenetic data and provide risk figures for inherited translocations.

    Main Methods:

    • Case report analysis of two families with balanced maternal translocations leading to trisomy 12p.
    • Review of 21 additional case reports to define the syndrome's phenotype.
    • Cytogenetic classification of 21 inherited translocations and segregation analysis of pedigree data.

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    Main Results:

    • Trisomy 12p is a well-defined syndrome characterized by severe developmental retardation and specific craniofacial anomalies.
    • Gene sequences responsible for features are located distally to band 12p12.
    • Severity of organ malformations and survival probability correlate with the degree of chromosomal imbalance.

    Conclusions:

    • The syndrome associated with trisomy 12p can be recognized by its distinct craniofacial features.
    • The extent of chromosomal imbalance influences the severity of clinical manifestations and prognosis.
    • Calculated risk figures are provided for different types of translocations based on cytogenetic and segregation analyses.