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      X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

      case-report

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          Abstract

          Background

          Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.

          Case presentation

          Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome.

          Conclusion

          Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome.

          Trial registration

          CPG137. Registered 03 March 2017.

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          Most cited references11

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          A rapid banding technique for human chromosomes.

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            Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism.

            Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending on the mode of ascertainment, with postnatal presentation usually generating a more severe phenotype than a prenatal one. Although patients with pure 45,X present with delayed puberty more often than those with mosaicism for 46,XX or 47,XXX cell lines, the chromosomal complement cannot reliably predict the clinical presentation. Most living TS patients are mosaics, whereas nearly all first-trimester TS fetuses have a single 45,X cell line. Exclusion of a Y cell line, the presence of which increases the risk of gonadoblastomas and subsequent gonadal germ cell tumors, is best accomplished by karyotype, fluorescence in situ hybridization, and DNA analysis if necessary. The precise genetic etiology of TS has not been elucidated, but it does appear that deletion of the short arm of the X chromosome is sufficient to result in the TS phenotype, thereby implicating haploinsufficiency of multiple genes, including SHOX. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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              Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.

              Fragile X Syndrome (FXS) is a learning disability seen in individuals who have >200 CGG•CCG repeats in the 5' untranslated region of the X-linked FMR1 gene. Such alleles are associated with a fragile site, FRAXA, a gap or constriction in the chromosome that is coincident with the repeat and is induced by folate stress or thymidylate synthase inhibitors like fluorodeoxyuridine (FdU). The molecular basis of the chromosome fragility is unknown. Previous work has suggested that the stable intrastrand structures formed by the repeat may be responsible, perhaps via their ability to block DNA synthesis. We have examined the replication dynamics of normal and FXS cells with and without FdU. We show here that an intrinsic problem with DNA replication exists in the FMR1 gene of individuals with FXS even in the absence of FdU. Our data suggest a model for chromosome fragility in FXS in which the repeat impairs replication from an origin of replication (ORI) immediately adjacent to the repeat. The fact that the replication problem occurs even in the absence of FdU suggests that this phenomenon may have in vivo consequences, including perhaps accounting for the loss of the X chromosome containing the fragile site that causes Turner syndrome (45, X0) in female carriers of such alleles. Our data on FRAXA may also be germane for the other FdU-inducible fragile sites in humans, that we show here share many common features with FRAXA.
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                Author and article information

                Contributors
                astelepova@mcb.nsc.ru
                rosa@mcb.nsc.ru
                lemnat@mcb.nsc.ru
                164706@mail.ru
                0310as@ngs.ru
                +7-383-363-9062 , dim@mcb.nsc.ru
                Journal
                Mol Cytogenet
                Mol Cytogenet
                Molecular Cytogenetics
                BioMed Central (London )
                1755-8166
                17 November 2017
                17 November 2017
                2017
                : 10
                : 43
                Affiliations
                [1 ]ISNI 0000 0001 2254 1834, GRID grid.415877.8, Institute of Molecular and Cellular Biology SB RAS, ; Lavrentieva ave. 8/2, Novosibirsk, 630090 Russia
                [2 ]ISNI 0000000121896553, GRID grid.4605.7, Novosibirsk State University, ; Novosibirsk, 630090 Russia
                [3 ]ISNI 0000 0004 0467 3915, GRID grid.445341.3, Novosibirsk State Medical University, ; Novosibirsk, 630091 Russia
                [4 ]Novosibirsk City Clinical Hospital No.1, Novosibirsk, 630047 Russia
                Article
                344
                10.1186/s13039-017-0344-2
                5693504
                a4788ca7-ca55-4325-801f-7289b0b0a193
                © The Author(s). 2017

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 8 August 2017
                : 3 November 2017
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/501100006769, Russian Science Foundation;
                Award ID: 15-15-10001
                Award Recipient :
                Categories
                Case Report
                Custom metadata
                © The Author(s) 2017

                Genetics
                marker chromosome,turner syndrome,dandy-walker syndrome,x-chromosome
                Genetics
                marker chromosome, turner syndrome, dandy-walker syndrome, x-chromosome

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