[PDF] Top 20 Complex small supernumerary marker chromosomes – an update
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Complex small supernumerary marker chromosomes – an update
... with complex sSMC – nine patients with a der(13 or 21)t(13 or 21;18) were reported ...other complex-sSMC as- sociated syndromes symptoms are very variable, even though a complete trisomy 18p is induced ... See full document
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Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis
... from small supernumerary marker chromosomes (sSMCs) produ- cing partial trisomy ...abnormal chromosomes that cannot be characterized by conven- tional banding cytogenetics ...duplicated ... See full document
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Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
... a complex sSMC, in a 6-year-old girl with clinical ...unexpected complex sSMC containing material from chromosomes 15 and 16, due to an inherited maternal translocation (passed along over several ... See full document
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Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization
... of chromosomes 13, 18, 21, X, and Y showed three X chromosome centromere signals in 40 out of 50 nuclei scored, suggesting that one of the marker chromosomes was derived from the X ...multiple ... See full document
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Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
... breakpoints within genomic regions of 1–10 Mb in size. In addition, this approach has been particularly useful in characterizing cryptic mosaic sSMCs [29], and for easily defining all involved breakpoints [13]. However, ... See full document
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Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report
... sexual chromosomes, with 41% of these being acrocentric derivatives (from chromosomes 15 and 13) ...are supernumerary inverted duplications (invdup) of the distal arm of a ...a complex chromo- ... See full document
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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance
... of chromosomes derived from the peripheral blood showed that each of the 21 cells analyzed had a modal number of 47 chromosomes including one X and one Y chromosome and a small supernumerary ... See full document
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Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report
... additional small supernumerary marker chromosome (sSMC) was discovered as well, which could not be ...revealed complex mosaicism with four cell ... See full document
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Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization
... with small supernumerary marker chromosomes (sSMCs) were ...from chromosomes 12 and 18 was identified in parallel with parental karyotype analysis that revealed the reciprocal balanced ... See full document
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Molecular characterization of an analphoid supernumerary marker chromosome derived from 18q22.1→qter in prenatal diagnosis: a case report
... Background: Small supernumerary marker chromosomes (sSMC) occur in ...A small group of sSMC are C-band-negative and devoid of alpha-satellite ...the marker in greater detail, we ... See full document
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Why it is crucial to analyze non clonal chromosome aberrations or NCCAs?
... The cytogenetic classification of karyotype aberrations has traditionally played a key role in genetic analysis and its applications in medical genetics. The establishment of normal karyotypes and the identification of ... See full document
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Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis
... The resolution of conventional cytogenetic analysis is limited to 5–10 Mb. Furthermore, it is inefficient and costly to use FISH in the identification of chromosomal origin. Recently, CMA has been applied to overcome the ... See full document
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Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics
... Small supernumerary marker chromosomes (sSMC) are reported in ...abnormal chromosomes that cannot be identified or characterized unambiguously by conven- tional banding cytogenetics ... See full document
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Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
... 22 complex sSMC are reported in the litera- ture (see ...all chromosomes can be involved in their formation; examples for chromosomes #1, #2, #3, #6, #10, #11, #19 and #20 will be detected, when more ... See full document
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Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them
... too small to be con- sidered for their chromosomal origin by traditional band- ing techniques; molecular cytogenetic techniques (including array based comparative genomic hybridiza- tion) are needed for their ... See full document
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Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?
... Several mechanisms have been reported for the forma- tion of inverted duplication with terminal deletion [3–7]. In this present case, an illegitimate crossing-over event took place between two maternal X homologous ... See full document
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The Hidden Genomic and Transcriptomic Plasticity of Giant Marker Chromosomes in Cancer
... the complex organization of neo- centromeres in cancer, and shed light on the extraordinarily high genomic and transcriptomic plasticity associated with RGMs in solid ... See full document
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A Microsatellite Linkage Map of Rainbow Trout (Oncorhynchus mykiss) Characterized by Large Sex-Specific Differences in Recombination Rates
... (Danio rerio). Nat. Genet. 18: 338–343. Wright, J. E. Jr., B. May, M. Stoneking and G. M. Lee, 1980 Pseu- Knott, S. A., L. Marklund, C. S. Haley, K. Andersson, W. Davies dolinkage of the duplicated loci for supernatant ... See full document
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Online Full Text
... returned small marker displacements, small marker cleaning ratio, and a narrow distribution and high value of the correlation ...larger marker cleaning ratio and smaller correlation ... See full document
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The Heterocyst Specific NsiR1 Small RNA Is an Early Marker of Cell Differentiation in Cyanobacterial Filaments
... Small noncoding RNAs (sRNAs) are transcribed in all groups of bacteria and are involved in every bacterial response to envi- ronmental cues. In the case of the model filamentous cyanobacte- rium Anabaena (Nostoc) ... See full document
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