A new chromosomal instability disorder confirmed by complementation studies.

@article{Wegner1988ANC,
  title={A new chromosomal instability disorder confirmed by complementation studies.},
  author={R D Wegner and M J Metzger and Folker A Hanefeld and Nicolaas G. J. Jaspers and Carla C. Baan and Klaus Magdorf and J{\"u}rgen Kunze and Karl Sperling},
  journal={Clinical genetics},
  year={1988},
  volume={33 1},
  pages={20-32}
}
Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but… CONTINUE READING

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