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Related Experiment Videos

Interstitial deletion 13q33 resulting from maternal insertional translocation.

B S Emanuel, E H Zackai, L Moreau

    Clinical Genetics
    |November 1, 1979
    PubMed
    Summary

    This study presents a unique interstitial deletion of chromosome 13q in a child, identified through cytogenetic and gene marker analysis. Findings refine the location of the esterase D (ESD) locus and map chromosomal breakpoints.

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    Area of Science:

    • Genetics
    • Molecular Biology
    • Cytogenetics

    Background:

    • A rare interstitial deletion of chromosome 13q was identified in a 32-month-old female.
    • The deletion resulted from a maternal insertional translocation involving chromosomes 7 and 13: 46,XX,ins(7;13)(q22;q32q34).

    Observation:

    • Cytogenetic and gene marker studies were performed.
    • The patient exhibited two esterase D alleles.
    • BudR dye studies analyzed chromosomal replication patterns.

    Findings:

    • The presence of two esterase D alleles excluded band 13q33 as the location of the ESD locus.
    • Deletion of 13q33 did not alter the replicative patterns of 13q31 and 13q21.
    • Precise breakpoints of the chromosomal rearrangement were delineated.

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    Implications:

    • This case refines the cytogenetic mapping of the esterase D (ESD) gene.
    • The study provides a precise delineation of chromosomal breakpoints in complex rearrangements.
    • Contributes to understanding the genetic basis of deletions on chromosome 13q.