Vorsanova Svetlana G, Kolotii Alexey D, Kurinnaia Oksana S, Kravets Victor S, Demidova Irina A, Soloviev Ilya V, Yurov Yuri B, Iourov Ivan Y
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412.
Yurov's Laboratory of Molecular Genetics and Cytogenomics of the Brain, Mental Health Research Center, Moscow, Russia, 115522.
Mol Cytogenet. 2021 Feb 11;14(1):9. doi: 10.1186/s13039-021-00529-2.
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.
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%).
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.
特纳综合征与X染色体单体或广泛的结构重排相关。尽管对研究（体细胞）染色体嵌合体很感兴趣，但特纳综合征嵌合体（TSM）仍有待全面描述。在临床队列（如神经发育障碍个体队列）中分析TSM时尤其如此。在此，我们展示了在一大群患有神经发育障碍的女孩中研究TSM的结果，并提出了一个强调诊断和预后价值的假设。
在4021名女孩中，有111名（2.8%）发现了与特纳综合征相关的核型。在35名女孩（0.9%）中检测到典型的与特纳综合征相关的核型。在76名女孩（1.9%）中发现了TSM。TSM表现为嵌合非整倍体（45,X/46,XX；45,X/47,XXX/46,XX；45,X/47,XXX），影响了47名女孩（1.2%）。在11名患有TSM的女孩（0.3%）中鉴定出源自X染色体的额外标记染色体。在12例（0.3%）中发现了等臂染色体iX(q)；1例为非嵌合型。在5名女孩（0.1%）中发现了与环状染色体相关的TSM。
本队列研究提供了关于TSM在女性神经发育障碍中的参与情况的数据。因此，TSM可能是脑部疾病（即神经退行性疾病和精神疾病）致病级联反应的一个要素。我们的数据使我们能够提出一个关于TSM水平个体发生变异的假设。相应地，似乎需要对TSM进行分子细胞遗传学监测，TSM可能是成人发病的多因素疾病的一个风险因素/生物标志物。
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