Share This Author
Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics.
There is a strong need for a better genotype-phenotype correlation enabling better genetic counseling and no increased risk for the presence of sSMC was detected in ICSI-induced pregnancies.
Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation
The first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13 is presented.
Hepatocyte differentiation of mesenchymal stem cells from human adipose tissue in vitro promotes hepatic integration in vivo
Pre-differentiation of human MSCs from adipose tissue into hepatocyte-like cells in vitro facilitates long term functional hepatic integration in vivo.
Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish
Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones.
Interestingly, aphidicolin was able to induce all types of rare and common FS, suggesting that these breakage-prone regions are less dependent on the inducing chemicals than originally supposed.
Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification
35 SMCs, which are derived from all human chromosomes, apart from chromosome 6, are presented, as demonstrated by the appropriate molecular cytogenetic approaches, such as centromere-specific multicolor fluoresence in situ hybridization (cenM-FISH), multicolOR banding (MCB), and subcentromer-specificMulticolor FISH (subcenFISH).
Chromosome distribution in human sperm – a 3D multicolor banding-study
Here for the first time a combination of multicolor banding (MCB) and three-dimensional analysis of interphase cells was used to characterize the position and orientation of all human chromosomes in sperm cells of a healthy donor.
Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes
Overall, as mosaicism is something to be considered in at least every second sSMC case, array-CGH studies cannot be offered as a screening test to reliably detect this kind of chromosomal aberration, as low level mosaic cases and cryptic mosaics are missed by that.
Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.
Signs are found of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, which could also play a role in elucidating the process of chromosome gain and loss during evolution.
Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature
Three new patients with neocentric small supernumerary marker chromosomes (sSMC) derived from chromosome 2, 13 and 15, respectively, which had inverted duplicated shapes and the sSMC(2) a ring chromosome shape are reported.