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Historical and Clinical Perspectives on Chromosomal Translocations

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Chromosome Translocation

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1044))

Abstract

Chromosomal translocations, rearrangements involving the exchange of segments between chromosomes, were documented in humans in 1959. The first accurately reported clinical phenotype resulting from a translocation was that of Down syndrome. In a small percentage of Down syndrome cases, an extra 21q is provided by a Robertsonian translocation chromosome, either occurring de novo or inherited from a phenotypically normal parent with the translocation chromosome and a balanced genome of 45 chromosomes. Balanced translocations, including both Robertsonian and reciprocal translocations, are typically benign, but meiosis in germ cells with balanced translocations may result in meiotic arrest and subsequent infertility, or in unbalanced gametes, with attendant risks of miscarriage and unbalanced progeny. Most reciprocal translocations are unique. A few to several percent of translocations disrupt haploinsufficient genes or their regulatory regions and result in clinical phenotypes. Balanced translocations from patients with clinical phenotypes have been valuable in mapping disease genes and in illuminating cis-regulatory regions. Mapping of discordant mate pairs from long-insert, low-pass genome sequencing now permits efficient and cost-effective discovery and nucleotide-level resolution of rearrangement breakpoints, information that is absolutely necessary for interpreting the etiology of clinical phenotypes in patients with rearrangements. Pathogenic translocations and other balanced chromosomal rearrangements constitute a class of typically highly penetrant mutation that is cryptic to both clinical microarray and exome sequencing. A significant proportion of rearrangements include additional complexity that is not visible by conventional karyotype analysis. Some proportion of patients with negative findings on exome/genome sequencing and clinical microarray will be found to have etiologic balanced rearrangements only discoverable by genome sequencing with analysis pipelines optimized to recover rearrangement breakpoints.

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Authors and Affiliations

  1. The Developmental Genome Anatomy Project, Brigham and Women’s Hospital, Boston, MA, USA

    Ellen S. Wilch & Cynthia C. Morton

  2. Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA, USA

    Ellen S. Wilch & Cynthia C. Morton

  3. Harvard Medical School, Boston, MA, USA

    Cynthia C. Morton

  4. Department of Pathology, Brigham and Women’s Hospital, Boston, MA, USA

    Cynthia C. Morton

  5. Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, USA

    Cynthia C. Morton

  6. Manchester Academic Health Science Centre, University of Manchester, Manchester, UK

    Cynthia C. Morton

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  1. Ellen S. Wilch
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Correspondence to Ellen S. Wilch .

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  1. National Institute of Biological Sciences, Beijing, China

    Yu Zhang

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Wilch, E.S., Morton, C.C. (2018). Historical and Clinical Perspectives on Chromosomal Translocations. In: Zhang, Y. (eds) Chromosome Translocation. Advances in Experimental Medicine and Biology, vol 1044. Springer, Singapore. https://doi.org/10.1007/978-981-13-0593-1_1

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