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De novo partial 2p duplication with postmortem description

P L Monteleone, J D Blair, E R Graviss

    American Journal of Medical Genetics
    |January 1, 1981
    PubMed
    Summary
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    A newborn with growth, facial, skeletal, and cardiac issues had an unbalanced karyotype, specifically a partial duplication on chromosome 2. Autopsy revealed significant central nervous system and ovarian abnormalities, indicating a complex genetic disorder.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Pathology

    Background:

    • Karyotypic abnormalities can lead to significant congenital malformations.
    • Chromosome 2 abnormalities are associated with various developmental disorders.

    Purpose of the Study:

    • To report a case of a newborn with a partial duplication of chromosome 2 short arm (2p13-pter).
    • To correlate the genetic finding with clinical and pathological features.

    Main Methods:

    • Karyotyping of the infant.
    • Parental karyotyping to rule out translocation.
    • Autopsy and histopathological examination of the infant.

    Main Results:

    • The infant presented with intrauterine growth retardation, facial dysmorphism, skeletal, and cardiac abnormalities.

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  • Karyotype revealed an unbalanced chromosomal constitution with a partial duplication of 2p13-pter.
  • No parental translocation was identified.
  • Autopsy showed significant histopathological abnormalities in the central nervous system and ovaries.

    • Conclusions:

    • Partial duplication of 2p13-pter is associated with a distinct phenotype including growth retardation and multiple congenital anomalies.
    • The genetic imbalance likely impacts multiple organ systems, including the CNS and gonads.
    • This case highlights the importance of detailed genetic analysis in infants with complex congenital abnormalities.