Sister chromatid exchange and lym phocyte proliferation in a Down syndrome mosaic

Heidemann, A.; Schmalenberger, B; Zankl, Heinrich

doi:10.1111/j.1399-0004.1983.tb01862.x

Cited by 8 publications

(1 citation statement)

References 13 publications

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“…The present study evaluated in vitro selection, PI and SCE frequencies of seventeen mosaic TS patients. So far in the literature, only few studies have evaluated cell proliferation of 45,X cells and of cells having other sex or autosomal chromosome anomalies [12,13,20,24,28,29,[30][31][32]. TS individuals who carry structurally abnormal chromosomes are a unique group, and they have provided opportunities to appraise the cellular consequences of chromosomal imbalance.…”

Section: Discussionmentioning

confidence: 99%

Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome

Goulart,

Vieira Neto,

Gracia

et al. 2024

Preprint

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Turner syndrome (TS) is caused by a complete or partial absence of an X or Y chromosome, including chromosomal mosaicism, affecting 1 in 2,500 female live births. Sister chromatid exchange (SCE) is used as a sensitive indicator of spontaneous chromosome instability. Cells from mosaic patients constitute useful material for SCE evaluations as they grow under the influence of the same genetic background and endogenous and exogenous factors. We evaluated proliferation dynamics and SCE frequencies of 45,X and 46,XN cells of 17 mosaic TS patients. In two participants, 45,X cells exhibited a proliferative disadvantage in relation to 46,XN cells after 72h of cultivation. The analysis of mean PI showed significant differences between 45,X and 46,XN lineages; however there were no intraindividual differences. On the other hand, mean SCE frequencies showed no differences between the two lineages, but there were intraindividual differences in 5 patients. The absence of mean SCE frequency differences between 45,X and 46,XN lineages may indicate that both were equally unstable, as more than 70% of the 46,XN lineages had an anomalous karyotype. However, 46,XN had a higher mean PI, suggesting that the amount of cells with a karyotype distinct from 45,X may increase with time in mosaic TS women.

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Section: Discussionmentioning

confidence: 99%

Cell Cycle Kinetics and Sister Chromatid Exchange in Mosaic Turner Syndrome

Goulart,

Vieira Neto,

Gracia

et al. 2024

Preprint

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Leukaemia and transient leukaemia in Down syndrome

1990

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We have reviewed 215 published cases of leukaemia and transient leukaemia in Down syndrome. There is an over-representation of mosaic trisomy 21, possibly the result, at least in part, of a survival effect. The most intriguing observation is a bimodal distribution of maternal age, produced largely because cases with true leukaemia have a significantly higher maternal age than cases with transient leukaemia (33.5 versus 29.5 years). In conjunction with evidence that meiosis I nondisjunction is infrequent in transient leukaemia, this suggests different mechanisms for the etiology of leukaemia and transient leukaemia, and favours a locus predisposing to transient leukaemia proximal to the centromere on the long arm of chromosome 21.

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