Publication | Open Access
New Immortalized Cell Lines of Patients With Small Supernumerary Marker Chromosome
12
Citations
20
References
2007
Year
Sister ChromosomesCytogeneticsGeneticsPathologyRefined Genotype-phenotype CorrelationKaryotype ImagingChromosome 22Variant InterpretationGenome InstabilityCell DivisionCell LinesGenetic VariationChromosomal RearrangementCell BiologyChromatinChromosome DynamicsGenetic DisorderChromosome BiologyMedicine
Sixteen newly established cell lines with small supernumerary marker chromosomes (sSMC) derived from chromosomes 1, 2, 4, 6, 7, 8, 14, 15, 16, 18, 19, 21, and 22 are reported. Two sSMC are neocentric and derived from 15q24.1-qter and 2q35-q36, respectively. Two further cases each present with two sSMC of different chromosomal origin. sSMC were characterized by multicolor fluorescence in situ hybridization for their chromosomal origin and genetic content. Moreover, uniparental disomy of the sister chromosomes of the sSMC was excluded in all nine cases studied for that reason. The 16 cases provide information to establish a refined genotype-phenotype correlation of sSMC and are available for future studies.
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