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'Complete 5p' trisomy: 1 case and 19 translocation carriers in 6 generations

F S Brimblecombe, F J Lewis, M Vowles

    Journal of Medical Genetics
    |August 1, 1977
    PubMed
    Summary

    A rare genetic condition, trisomy of the short arm of chromosome 5, caused multiple malformations and developmental delays in an infant. This occurred due to a maternal balanced translocation present for six generations.

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    Area of Science:

    • Human genetics
    • Cytogenetics
    • Pediatric pathology

    Background:

    • A balanced translocation, t(5;15)(p11;p12), was identified in a mother, indicating a rearrangement of genetic material between chromosomes 5 and 15.
    • This balanced translocation was found to have been inherited and present within the family for at least six generations, suggesting its long-standing presence.

    Observation:

    • A female infant presented with multiple congenital malformations and significant developmental delay (mental retardation).
    • The infant's karyotype revealed trisomy for the complete short arm of chromosome 5 (46,XX, der(5)t(5;15)(p11;p12)mat), indicating an excess of genetic material from chromosome 5.

    Findings:

    • The infant's trisomy 5p resulted from unbalanced segregation of the mother's balanced translocation during meiosis.
    • This specific unbalanced chromosomal arrangement led to the observed severe phenotype in the proband.

    Implications:

    • This case highlights the potential for severe developmental outcomes in offspring inheriting unbalanced chromosomal rearrangements from balanced translocation carriers.
    • Understanding familial translocations is crucial for genetic counseling and prenatal diagnosis in at-risk families.
    • The study underscores the importance of cytogenetic analysis in diagnosing complex congenital anomalies and tracing their inheritance patterns.

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