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Related Experiment Videos

Fragile site at 12q13 associated with phenotypic abnormalities.

S Morić-Petrović, Z Laca

    Journal of Medical Genetics
    |June 1, 1984
    PubMed
    Summary

    This study describes a 3-year-old boy with severe psychomotor retardation and a complex chromosomal abnormality, specifically a translocation involving chromosomes 13 and 14, and a fragile site on chromosome 12. The research explores the potential link between this fragile site and the patient's developmental delays.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Severe psychomotor retardation is a significant developmental disability.
    • Chromosomal abnormalities can lead to complex congenital disorders.
    • Fragile sites are specific points on chromosomes prone to breakage.

    Observation:

    • A 3-year-old boy presented with severe psychomotor retardation and dysmorphic features.
    • Karyotyping revealed a complex chromosomal rearrangement: 45,XY,t(13q;14q)rob, fra(12q13).
    • The karyotype indicates a Robertsonian translocation between chromosomes 13 and 14, and a fragile site at 12q13.

    Findings:

    • The specific chromosomal abnormality t(13q;14q)rob involves the fusion of parts of chromosomes 13 and 14.
    • The presence of a fragile site at 12q13 (fra(12q13)) is noted in the patient's karyotype.

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  • The study investigates the potential contribution of fra(12q13) to the observed clinical phenotype.

    • Implications:

    • Understanding the role of specific chromosomal abnormalities like fra(12q13) is crucial for diagnosing and managing developmental disorders.
    • This case highlights the importance of detailed cytogenetic analysis in patients with unexplained psychomotor retardation.
    • Further research may elucidate the mechanisms by which fragile sites influence neurodevelopment.