Publications by authors named "Martina Merkas"

Article Synopsis
  • The study investigates heterochromatic variants of chromosome 9 through the largest molecular cytogenetic research involving over 300 carriers, revealing 17 distinct variants, five of which were previously unreported.
  • A new 3-color FISH probe-set allowed researchers to classify 21 out of the 24 known heteromorphic patterns, with pericentric inversions being the most common.
  • The findings indicate that certain variants occur more frequently in Western Europe compared to Eastern Europe, and there is no strong connection established between these variants and infertility.
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Mental retardation is correlated in approximately 0.4% of cases with the presence of a small supernumerary marker chromosome (sSMC). However, here we report a case of a carrier of a heterochromatic harmless sSMC with fragile X syndrome (Fra X).

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Somatic mosaicism is something that is observed in everyday lives of cytogeneticists. Chromosome instability is one of the leading causes of large-scale genome variation analyzable since the correct human chromosome number was established in 1956. Somatic mosaicism is also a well-known fact to be present in cases with small supernumerary marker chromosomes (sSMC), i.

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There is a growing interest for the application of biomakers to field-collected earthworms. Therefore we have evaluated the usability of native populations of endogeic, widely distributed earthworm Aporrectodea caliginosa in the assessment of soil genotoxicity using the Comet assay. Validation of the Comet assay on earthworm coelomocytes has been established using commercially available Eisenia fetida exposed to copper, cadmium, and pentachlorophenol, along with A.

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