Abstract.
A supernumerary C-band-positive microchromosome was observed in 88% of lymphocyte metaphases from a healthy 24-year-old female. Traditional cytogenetic analyses failed to determine the microchromosome's origin and structure. However, hybridization experiments with a panel of chromosome-specific α-satellite probes demonstrated that this microchromosome was derived from chromosome 16 and consisted mainly of transcriptionally inactive α-satellite DNA. The microchromosome closely associated with the centromere of most chromosomes. An even more pronounced centromeric association pattern was observed in a further microchromosome that was found to contain chromosome 18-specific α-satellite DNA. The latter microchromosome was detected in a female newborn affected with fetal alcohol syndrome. The two microchromosomes described here did not appear to bear major phenotypic risks.
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Felbor, U., Rutschow, D., Haaf, T. et al. Centromeric association of chromosome 16- and 18-derived microchromosomes. Hum Genet 111, 16–25 (2002). https://doi.org/10.1007/s00439-002-0744-0
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DOI: https://doi.org/10.1007/s00439-002-0744-0