Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

Liehr, Thomas; Starke, Heike; Senger, Gabriele; Melotte, Cindy; Weise, Anja; Vermeesch, Joris Robert

doi:10.1002/ajmg.a.31048

Cited by 27 publications

(19 citation statements)

References 27 publications

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“…In these two cases the amount of alphoid DNA sequences on the sSMC was too small to be detected by FISH. A similar observation was previously described for a case of an sSMC [5] (9). In the latter the presence of D1/5/19Z1 sequences was confirmed by microdissection and reverse FISH.…”

Section: Discussionsupporting

confidence: 85%

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Manvelyan

Riegel²,

Santos³

et al. 2008

Int J Mol Med

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Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-57505 Originally published at: Manvelyan, Marina; Riegel, Mariluce; Santos, Monica; Fuster, Carme; Pellestor, Franck; Mazaurik, Marie-Luise; Schulze, Bernt; Polityko, Anna; Tittelbach, Hanne; Reising-Ackermann, Gisela; Belitz, Britta; Hehr, Ute; Kelbova, Christina; Volleth, Marianne; Gödde, Elisabeth; Anderson, Jasen; Küpferling, Peter; Köhler, Sigrid; Duba, Hans-Christoph; Dufke, Andreas; Aktas, Dilek; Martin, Thomas; Schreyer, Isolde; Ewers, Elisabeth; Reich, Daniela; Mrasek, Kristin; Weise, Anja; Liehr, Thomas (2008). Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. International Journal of Molecular Medicine, 21(6):705-714.Abstract. Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.

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Section: Discussionsupporting

confidence: 85%

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Manvelyan

Riegel²,

Santos³

et al. 2008

Int J Mol Med

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“…Multiple sSMCs (Liehr, Starke, et al 2006) are formed most probably another way. However, it can only be speculated here, as only a few of these multiple sSMCs have been studied for UPD at all, and all studies done were without UPD (Liehr 2011a(Liehr , 2011b, that one possible explanation would be triploidy rescue and another explanation multiple trisomy rescue.…”

Section: How Does Upd Form Together With An Ssmc?mentioning

confidence: 99%

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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“…Thus, pericentromeric array CGH would be particularly useful in cases in which multiple markers of unknown origin are identified in a single individual by standard cytogenetic techniques. [13][14][15] Characterization of euchromatic DNA content of sSMCs by pericentromeric array CGH Many of the molecular cytogenetic assays currently used to identify the chromosomal origin and euchromatic content of sSMCs are limited to the detection of the presence or absence of one or a few probes in the centromeric or pericentromeric regions of the genome (e.g., centromere-specific single FISH probes, cenM-FISH, and subcenM-FISH). Other methods such as WCP or multicolor banding (MCB) can be more inclusive but are best suited for larger marker chromosomes and can still lead to ambiguous interpretation.…”

Section: Identification Of the Chromosomal Origin Of Ssmcs By Pericenmentioning

confidence: 99%

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH

Ballif

Hornor

Sulpizio

et al. 2007

Genetics in Medicine

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Purpose: Small supernumerary marker chromosomes are centric chromosomal segments that, by definition, cannot be characterized unambiguously by conventional chromosome banding. Marker chromosomes are of particular interest in clinical cytogenetics because they are nearly 10 times more frequent in individuals with mental retardation (0.426%) than in the normal population (0.043%). However, they are often found in only a small percentage of cells, making them difficult to detect and characterize in a diagnostic setting. We designed, constructed, and employed a bacterial artificial chromosome (BAC)-based microarray to demonstrate the utility of array-based comparative genomic hybridization (array CGH) for detecting and characterizing marker chromosomes in clinical diagnostic specimens. Methods: We constructed a high-density microarray using 974 BAC clones that were mapped by fluorescence in situ hybridization and cover approximately 5 Mb of the most proximal unique sequence adjacent to the centromere on all 43 unique pericentromeric regions of the human genome (excluding the acrocentric short arms). This array was used to further characterize 20 previously identified marker chromosomes that were originally found with either conventional chromosome analysis or a targeted microarray. Results: The enhanced coverage of this pericentromeric array not only identified the chromosomal origin of each marker in 15 cases, it also distinguished between the involvement of the short arm and/or the long arm of each chromosome, defined the sizes of many of the markers, and revealed complex rearrangements or multiple markers in single individuals. However, in five cases, the markers could not be identified by this assay, most likely because of very low levels of mosaicism and/or their small size and lack of detectable euchromatin. The expanded coverage of the pericentromeric regions represented on the array was adequate to refine the breakpoints in two-thirds of all cases in which a marker chromosome was identified by this assay. Conclusions: This study demonstrates the utility of array CGH in the detection and characterization of mosaic marker chromosomes. Because approximately one-third of the markers characterized in this study involved more unique sequence than that represented on this array, additional pericentromeric coverage may be even more valuable. We anticipate that this will allow detailed characterization of small supernumerary marker chromosomes that will greatly facilitate phenotype/genotype correlations and play a valuable role in the diagnosis and medical management of both pre-and postnatal cases in which marker chromosomes have been identified. Genet Med 2007:9(3):150-162.

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Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

Cited by 27 publications

References 27 publications

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature

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

Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGH

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