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[Prenatal diagnoses in a family with pericentric inversion of chromosome no. 5]

H Körner, B Degen, I Röse

    Zentralblatt Fur Gynakologie
    |January 1, 1983
    PubMed

    Insights

    A family with a chromosome 5 pericentric inversion experienced a child with Cri-du-Chat syndrome. Prenatal diagnosis identified the inversion in one pregnancy, leading to its termination.

    Area of Science:

    • Human Genetics
    • Medical Genetics
    • Cytogenetics

    Background:

    • Hereditary chromosomal abnormalities can lead to congenital disorders.
    • Pericentric inversions are structural rearrangements of chromosomes that can disrupt gene function.
    • Cri-du-Chat syndrome is a genetic disorder caused by a deletion on the short arm of chromosome 5.

    Observation:

    • A family presented with a child diagnosed with Cri-du-Chat syndrome (46,XY,del(5)(p13)).
    • Genetic analysis revealed a hereditary pericentric inversion of chromosome 5 (p13 to q35) in the family.
    • Prenatal diagnosis was performed on three pregnancies within the family.

    Findings:

    • The first pregnancy resulted in a phenotypically normal female (46,XX).
    • The second pregnancy yielded a phenotypically normal male with the identified pericentric inversion (46,XY, inv(5)(p13 to q35)).
    • The third pregnancy showed a derivative chromosome 5 (46,XX,der (5)(pter to q35::p13 to pter)) and was terminated. Fetal kidney tissue culture confirmed these cytogenetic findings.

    Implications:

    • This case highlights the importance of cytogenetic analysis in families with recurrent genetic disorders.
    • Prenatal diagnosis is crucial for identifying chromosomal abnormalities and informing reproductive decisions.
    • Understanding the inheritance patterns of chromosomal inversions is vital for genetic counseling and risk assessment.

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