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Cytogenetic and molecular studies of trisomy 13.

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  • 1. Department of Pediatrics, Cornell University Medical College, New York, NY 10021.
      Authors
    • Hassold T 1
    (1 author)

Journal of Medical Genetics, 01 Dec 1987, 24(12):725-732
https://doi.org/10.1136/jmg.24.12.725 PMID: 2892938 PMCID: PMC1050401

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Abstract 

Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The most common origin for the simple trisomies was non-disjunction at maternal meiosis I, while for the translocations an equal number of paternally and maternally derived cases was observed. In seven of the simple trisomies, information was obtained from both the cytogenetic and molecular markers, making it possible to study recombination between the two non-disjoined chromosomes. Five of the seven cases involved errors at meiosis I, with crossing over being detected in two of three cases of maternal origin and in one of two cases of paternal origin. This indicates that absence of recombination because of pairing failure is unlikely to be of major importance in the genesis of trisomy 13.

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J Med Genet. 1987 Dec; 24(12): 725–732.
PMCID: PMC1050401
PMID: 2892938

Cytogenetic and molecular studies of trisomy 13.

T Hassold, P A Jacobs, M Leppert, and M Sheldon
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Abstract

Chromosome heteromorphisms, restriction fragment length polymorphisms, or both were used to study the parental origin of 33 cases of simple trisomy 13 and eight cases of translocation trisomy 13. The most common origin for the simple trisomies was non-disjunction at maternal meiosis I, while for the translocations an equal number of paternally and maternally derived cases was observed. In seven of the simple trisomies, information was obtained from both the cytogenetic and molecular markers, making it possible to study recombination between the two non-disjoined chromosomes. Five of the seven cases involved errors at meiosis I, with crossing over being detected in two of three cases of maternal origin and in one of two cases of paternal origin. This indicates that absence of recombination because of pairing failure is unlikely to be of major importance in the genesis of trisomy 13.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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Funding 

Funders who supported this work.

NCRR NIH HHS (1)

NICHD NIH HHS (1)