Mosaic telomeric (2;14) association in a child with motor delay.

@article{Engelen2000MosaicT,
  title={Mosaic telomeric (2;14) association in a child with motor delay.},
  author={J. J. Engelen and Carlo L. M. Marcelis and Jos Herbergs and James Corey Weber and Margo Alofs and Jozefa C M Albrechts and A. J. H. Hamers},
  journal={American journal of medical genetics},
  year={2000},
  volume={92 5},
  pages={318-21}
}
In a 6-year-old girl referred because of mild motor delay and hyperextensible joints, chromosome analysis disclosed a derivative chromosome consisting of end-to-end fusion of chromosomes 2 and 14. Two cell lines existed in which this telomere association was present, one with a 45,XX,tas(2;14)(q37;p11) karyotype and one with a 45,XX,tas(2;14) (q37;q32) karyotype. The cell line with the telomeric fusion of 2q and 14p was present in 90% of the cells; a telomeric fusion of 2q and 14q was seen in… CONTINUE READING

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