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Partial trisomy 16p due to maternal balanced translocation.

L E McMorrow, S Bornstein, R H Fischer

    Journal of Medical Genetics
    |August 1, 1984
    PubMed
    Summary

    A male infant presented with multiple malformations due to partial trisomy of chromosome 16p. This genetic condition was linked to a balanced translocation in the mother, specifically t(14;16).

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    Area of Science:

    • Genetics
    • Human Molecular Genetics
    • Reproductive Genetics

    Background:

    • Genetic abnormalities can lead to congenital malformations in newborns.
    • Chromosomal translocations are a significant cause of recurrent miscarriages and genetic disorders in offspring.

    Observation:

    • A newborn male infant of East Asian descent exhibited multiple congenital anomalies.
    • Karyotype analysis revealed partial trisomy of the 16p chromosome region in the infant.

    Findings:

    • The infant's genetic makeup indicated an extra segment of chromosome 16p, a condition known as partial trisomy 16p.
    • The mother was identified as a carrier of a balanced translocation between chromosomes 14 and 16, specifically 46,XX,t(14;16)(q32;p12).

    Implications:

    • This case highlights the importance of genetic counseling for carriers of chromosomal translocations.
    • Understanding such chromosomal rearrangements is crucial for predicting recurrence risks and providing appropriate prenatal diagnosis.
    • Partial trisomy 16p can result in a spectrum of developmental abnormalities, emphasizing the need for further research into genotype-phenotype correlations.

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