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. 2021 Feb 11;14(1):9.
doi: 10.1186/s13039-021-00529-2.

Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Svetlana G Vorsanova #  1   2 , Alexey D Kolotii #  1   2 , Oksana S Kurinnaia  1   2 , Victor S Kravets  1   2 , Irina A Demidova  1   2 , Ilya V Soloviev  2 , Yuri B Yurov  1   2 , Ivan Y Iourov  3   4   5
Affiliations

Turner's syndrome mosaicism in girls with neurodevelopmental disorders: a cohort study and hypothesis

Svetlana G Vorsanova et al. Mol Cytogenet. .

Abstract

Background: Turner's syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner's syndrome mosaicism (TSM) remains to be fully described. This is especially true for the analysis of TSM in clinical cohorts (e.g. cohorts of individuals with neurodevelopmental disorders). Here, we present the results of studying TSM in a large cohort of girls with neurodevelopmental disorders and a hypothesis highlighting the diagnostic and prognostic value.

Results: Turner's syndrome-associated karyotypes were revealed in 111 (2.8%) of 4021 girls. Regular Turner's syndrome-associated karyotypes were detected in 35 girls (0.9%). TSM was uncovered in 76 girls (1.9%). TSM manifested as mosaic aneuploidy (45,X/46,XX; 45,X/47,XXX/46,XX; 45,X/47,XXX) affected 47 girls (1.2%). Supernumerary marker chromosomes derived from chromosome X have been identified in 11 girls with TSM (0.3%). Isochromosomes iX(q) was found in 12 cases (0.3%); one case was non-mosaic. TSM associated with ring chromosomes was revealed in 5 girls (0.1%).

Conclusion: The present cohort study provides data on the involvement of TSM in neurodevelopmental disorders among females. Thus, TSM may be an element of pathogenic cascades in brain diseases (i.e. neurodegenerative and psychiatric disorders). Our data allowed us to propose a hypothesis concerning ontogenetic variability of TSM levels. Accordingly, it appears that molecular cytogenetic monitoring of TSM, which is a likely risk factor/biomarker for adult-onset multifactorial diseases, is required.

Keywords: Aneuploidy; Chromosome X; Fluorescence in situ hybridization (FISH); Molecular cytogenetics; Phenotype; Somatic mosaicism; Turner’s syndrome.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Molecular cytogenetic findings in a female with non-mosaic monosomy X; a FISH with a DXZ1 DNA probe (chromosome X, one green signal) and D1Z1 DNA probe (chromosomes 1, two red signals); b SNP-array results demonstrating non-mosaic X chromosome loss (regular monosomy X)
Fig. 2
Fig. 2
Interphase FISH with DXZ1 and D1Z1 DNA probes (chromosome X/green signals and chromosomes 1/red signals, respectively); a case of monosomy/disomy mosaicism; b case of monosomy/disomy/trisomy mosaicism
Fig. 3
Fig. 3
FISH on metaphase plates of a girl with an isochromosome X; a FISH with DXZ1 and D1Z1 DNA probes (chromosome X/green signals and chromosomes 1/red signals, respectively); note X chromosome loss in two interphase nuclei (left and upper right) indicating this case to be mosaic; b one-color FISH with DXZ1 DNA probe demonstrating isochromosome to be dicentric
Fig. 4
Fig. 4
FISH with a DXZ1 DNA probe on metaphase plates of two girls with ring chromosome X (a, b); a note X chromosome loss in interphase nucleus indicating the case to be mosaic
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References

    1. Shereshevsky NA. On the problem of multiple developmental anomalies and their relation of the endocrine gonads. Vestik Endokrinologii. 1925;1:295–301.
    1. Turner HT. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566–574. doi: 10.1210/endo-23-5-566. - DOI - PubMed
    1. Böhles H. Ullrich-Turner-Syndrom, 1929–1938. In: Böhles H, editor. Historische Fälle aus der Medizin. Berlin: Springer; 2020. pp. 269–280.
    1. Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome) Lancet. 1959;1(7075):711–713. doi: 10.1016/S0140-6736(59)91893-8. - DOI - PubMed
    1. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351:1227–1238. doi: 10.1056/NEJMra030360. - DOI - PubMed

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