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A new chromosomal instability disorder confirmed by complementation studies.

R D Wegner1, M Metzger, F Hanefeld

  • 1Institute of Human Genetics, Free University of Berlin, FRG.

Clinical Genetics
|January 1, 1988
PubMed
Summary
This summary is machine-generated.

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This study describes two sisters with a rare genetic disorder featuring microcephaly and immunodeficiency. Genetic analysis revealed a unique defect, distinct from ataxia telangiectasia and Nijmegen breakage syndrome.

Area of Science:

  • Genetics
  • Immunology
  • Cell Biology

Background:

  • Two sisters presented with a complex syndrome including microcephaly, microgenia, skin pigmentation defects, anal anomalies, and combined immunodeficiency.
  • These patients also exhibited spontaneous chromosomal instability and hypersensitivity to ionizing radiation and bleomycin.

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