Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Трифонов, Владимир; Fluri, Simon; Binkert, Franz; Adayapalam, Nandini; Anderson, Jasen; Rodríguez, Laura; Groß, Matthias; Kosyakova, Nadezda; Mkrtchyan, Hasmik; Ewers, Elisabeth; Reich, Daniela; Weise, Anja; Liehr, Thomas

doi:10.1186/1755-8166-1-6

Cited by 31 publications

(33 citation statements)

References 16 publications

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“…Complex SMCs are recognized more often when aCGH is used. The frequency of complex markers is greater than 0.9%, 10 as shown by our small cohort of 10 patients. aCGH drew finer boundaries for the sSMCs to include 5p13 duplication syndrome and 19q11.2q11.3 duplication obesity-related syndrome genes that provided a strong phenotype correlation in the absence of other copy-number changes.…”

Section: Systematic Reviewsupporting

confidence: 60%

“…9 However, our knowledge on the clinical significance of the other sSMCs is limited. Although complex markers are estimated to form only a small percentage (~0.9%) of SMCs, 10 this may be an underestimation as highlighted in two recent studies applying aCGH to SMCs. 11,12 To address the frequency of complex markers and to provide prognosis based on a meaningful genotype-to-phenotype correlation, we took a systematic, comprehensive approach to precisely characterize 10 consecutive SMCs using chromosome analysis, aCGH, and FISH.…”

mentioning

confidence: 98%

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A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Reddy

Aradhya²,

Meck³

et al. 2013

Genetics in Medicine

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Section: Systematic Reviewsupporting

confidence: 60%

mentioning

confidence: 98%

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Reddy

Aradhya²,

Meck³

et al. 2013

Genetics in Medicine

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“…Several reported complex sSMCs derived from a 3: 1 segregation mechanism were recently summarized by Trifonov et al [2008]. The proposed mechanism for the formation of these sSMCs could not be verified due to either unavailability of the parental samples for cases 1-3 or the normal parental karyotypes for case 4.…”

Section: Mechanisms Leading To the Formation Of The Ssmcsmentioning

confidence: 99%

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Fiedler²,

Brawner³

et al. 2011

Cytogenet Genome Res

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Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR). Of the 14 sSMCs, 4 were complex sSMCs composed of genomic materials from more than one chromosome, 7 were simple sSMCs which contain only centromeric and/or pericentromeric regions from individual chromosomes, and the remaining 3 sSMCs contained inverted duplications. CMA precisely defined the breakpoints and genetic contents in 12 of the 14 sSMCs but failed to identify 2 of the 14 sSMCs due to lack of detectable euchromatin. In addition, CMA revealed unexpected genomic abnormalities in 2 cases. FISH techniques were necessary for the determination of the physical location, structure, formation mechanism, mosaic level, and origin of all these sSMCs. Our data emphasize the necessity to combine these methods for comprehensive characterization of sSMCs

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“…sSMCs have been observed to be derived from any of the 24 human chromosomes, but most of them originate from chromosome 15, followed by chromosome 22 (http://www.fish.uniklinikum-jena.de/sSMC.html). One of the smallest sSMC subgroups is constituted by the so-called complex sSMCs, which contain chromosomal material of more than one chromosome [Trifonov et al, 2008]. Vetro et al [2012] also described 4 patients with sSMCs originated by an un-expected mechanism.…”

mentioning

confidence: 99%

First Report of a Small Supernumerary der(8;14) Marker Chromosome

Guilherme

Dutra

Perez

et al. 2013

Cytogenet Genome Res

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Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes, generally equal in size or smaller than a chromosome 20 of the same metaphase spread. Most of them are unexpectedly detected in routine karyotype analyses, and it is usually not easy to correlate them with a specific clinical picture. A small group of sSMCs is derived from more than one chromosome, called complex sSMCs. Here, we report on a patient with a de novo complex sSMC, derived from chromosomes 8 and 14. Banding karyotype analysis, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP)-based array, and fluorescence in situ hybridization (FISH) were performed to investigate its origin. Array and FISH analyses revealed a der(14)t(8;14)(p23.2;q22.1)dn. The propositus presents some clinical features commonly found in patients with partial duplication or triplication of 8p and 14q. This is the first report describing a patient with a congenital der(14)t(8;14)(p23.2;q22.1)dn sSMC.

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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?

Cited by 31 publications

References 16 publications

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

First Report of a Small Supernumerary der(8;14) Marker Chromosome

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