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Published on: February 21, 2015

Duplication 12q24----qter in an infant with Dandy-Walker syndrome

E A MacDonald, J J Holden

    Journal of Neurogenetics
    |April 1, 1985
    PubMed

    Insights

    A boy with Dandy-Walker syndrome had an abnormal chromosome 21 due to his father's balanced translocation. This case highlights the link between chromosomal anomalies and congenital conditions.

    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Dandy-Walker syndrome is a congenital brain malformation.
    • Multiple congenital abnormalities can occur alongside Dandy-Walker syndrome.
    • Chromosomal abnormalities are implicated in various developmental disorders.

    Observation:

    • A case study of a boy with Dandy-Walker syndrome and multiple congenital abnormalities.
    • Detailed chromosomal analysis revealed an abnormal chromosome 21.
    • The abnormal chromosome 21 was inherited from the father, who had a balanced translocation rcp(12;21)(q24.1;q22.1).

    Findings:

    • The patient presented with clinical features consistent with duplication 12q24----qter.
    • This case provides evidence for a specific chromosomal anomaly contributing to Dandy-Walker syndrome.
    • A literature review of chromosomal anomalies in Dandy-Walker syndrome patients is presented.

    Implications:

    • Understanding the genetic basis of Dandy-Walker syndrome is crucial for diagnosis and genetic counseling.
    • This finding may contribute to identifying specific genetic markers for Dandy-Walker syndrome.
    • Further research into chromosomal aberrations and congenital malformations is warranted.

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