Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

Liehr, Thomas; Карамышева, Т. В.; Merkaš, Martina; Brecevic, Lukrecija; Hamid, Ahmed B.; Ewers, Elisabeth; Mrasek, Kristin; Kosyakova, Nadezda; Weise, Anja

doi:10.2174/138920210793176029

Cited by 46 publications

(41 citation statements)

References 52 publications

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“…Different types of mosaicism can be found, the most common being 47,XX,+mar/46,XX. 14 The analysis of chromosomal abnormalities and comparison with literature data revealed that the alterations identified in this study occur in regions determined by breakpoints also described in previous studies with patients with MR. In the 46,XX,inv(2)(p24q22) inversion, for example, there is the q22 breakpoint located close to the ZEB2 gene.…”

Section: Resultssupporting

confidence: 79%

Retrospective karyotype study in mentally retarded patients

Teixeira¹,

Marques²,

Freire³

2016

Rev. Assoc. Med. Bras.

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Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Conclusion: Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.

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Section: Resultssupporting

confidence: 79%

Retrospective karyotype study in mentally retarded patients

Teixeira¹,

Marques²,

Freire³

2016

Rev. Assoc. Med. Bras.

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“…Also, cryptic mosaicism (Liehr, Mrasek, et al 2006;Liehr et al 2010) can be observed in both groups. Interestingly, a statistically significant difference (t-test: p = 0.001) was observed for appearance of mosaicism in sSMC U− (52%; Liehr et al 2010) and sSMC U+ cases (76%; …”

Section: Mosaicismmentioning

confidence: 93%

Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell

Liehr

Ewers

Hamid

et al. 2011

J Histochem Cytochem.

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Small supernumerary maker chromosomes (sSMC) and uniparental disomy (UPD) are rare, and a combination of both is rarely encountered. Accordingly, only 46 sSMC cases UPD have been reported. Despite of its rareness, UPD has to be considered, especially in prenatal cases with sSMC. Here, the authors reviewed all sSMC cases with UPD (sSMCU+) and compared them to sSMC without UPD (sSMCU−), which resulted in the following correlations: 1) every sSMC, irrespective of its chromosomal origin, may be principally connected with UPD; 2) mixed hetero- and iso-UPD (hUPD/iUPD) can be observed most often in sSMCU+ cases followed by complete iUPD, complete hUPD, and segmental iUPD; 3) UPD of chromosomes 6, 7, 14, 15, 16, and 20 is most often reported in sSMCU+; 4) maternal UPD was approximately nine times more frequent than paternal UPD; 5) if mosaic with a normal cell line, acrocentric-derived sSMC had a three times higher chance of occurrence than the corresponding nonmosaic sSMC cases; 6) UPD in connection with a parentally inherited sSMC is, if existent at all, a rare event; and 7) the gender type and shape of sSMC had no effect on UPD formation. Overall, sSMCU+ cases may have a story to tell about chromosome number control mechanisms in early embryogenesis.

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“…They are in almost all instances detected in routine cytogenetics as an unexpected finding [Liehr et al 2004]. In prenatal cases sSMC are not easily aligned with a specific clinical outcome [Liehr et al 2010]. Even though progress towards genotype-phenotype-correlation was achieved already [Liehr et al 2006;Liehr 2014], the reason for the correlation of sSMC with infertility, especially in males remains unresolved.…”

Section: Introductionmentioning

confidence: 99%

Small supernumerary marker chromosomes and the nuclear architecture of sperm – a study in a fertile and an infertile brother

Карамышева¹,

Kosyakova

Guediche

et al. 2014

Systems Biology in Reproductive Medicine

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Small supernumerary marker chromosomes (sSMC) are found about four times more frequently in subfertile compared to the general population. The reason for this finding is still unclear. However, a connection of interphase architecture and genome function is suggested. And as we found in a previous study the presence of sSMC influences the nuclear architecture of peripheral blood cells and fibroblasts, we hypothesized that sSMC could have similar effects in sperm cells possibly leading to infertility. Here we applied for the first time 3-dimensional interphase fluorescence in situ hybridization (3D-FISH) to characterize the position of an extrachromosome with respect to its sister-and selected other chromosomes (6, 15, 18, 19, 21, X, and Y) in sperm. Two sSMC carrier brothers with the identical sSMC derived from chromosome 15 were studied. One of the brothers was fertile and the other brother was infertile. Deviations from the normal positioning of chromosomes 21 and Y were seen in both brothers and for chromosomes 19 and X only in the infertile brother. Most striking were high rates of nullisomy and/or disomy for chromosomes 15, including sSMC (15), and 18 exclusively seen in the infertile brother. Overall, further evidence is provided that sSMC influence the nuclear architecture of a cell, including sperm. Further studies are necessary in sperm of fertile and infertile sSMC carriers to elaborate if the detected aneuploidy like that seen in the infertile brother is due to sSMC presence and disturbance of nuclear architecture.

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Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

Cited by 46 publications

References 52 publications

Retrospective karyotype study in mentally retarded patients

Retrospective karyotype study in mentally retarded patients

Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell

Small supernumerary marker chromosomes and the nuclear architecture of sperm – a study in a fertile and an infertile brother

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