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Small supernumerary marker chromosomes (sSMC) in humans
An overview of small supernumerary marker chromosomes is presented, including the first attempt to address problems of nomenclature and their modes of formation, problems connected with mosaicism plus familial occurrence and a short review of the up-to-date approaches available for sSMC characterization.
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.
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
The data indicate that TRPS III is at the severe end of theTRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene.
High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes
- I. Chudoba, A. Plesch, T. Lörch, J. Lemke, U. Claussen, G. Senger
- ChemistryCytogenetic and Genome Research
- 14 June 1999
A new multicolor-banding technique has been developed which allows the differentiation of chromosome region specific areas at the band level. This technique is based on the use of differently labeled…
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).
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect.
The role of mosaic imprinting defects in mental retardation is underestimated, and it is suggested that patients with a higher percentage of normally methylated cells tend to have milder clinical symptoms than patients with lower percentage.
A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH)
The usefulness of the cenM-FISH technique for the characterization of small supernumerary marker chromosomes with no (or nearly no) euchromatin and restricted amounts of available sample material is demonstrated in prenatal, postnatal, and tumor cytogenetic cases.
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements
It is demonstrated that constitutional inversions affecting the pericentromeric region of chromosome 9 carry breakpoints located preferentially in 9p12 or 9q13-21.1 and less frequently in 9q12.1, two regions that are usually not distinguishable by molecular cytogenetic techniques.
The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability.
The isolated PKX1 gene, by virtue of its position within the candidate region for chondrodysplasia punctata in Xp22.3.3, appears to encode a novel type of human protein kinase that is related to the catalytic subunit of cAMP-dependent protein kinases and has striking homology to the DC2protein kinase from Drosophila melanogaster.