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AT‐related disorder
Author(s) -
Wegner R.D.,
Metzger M.,
Hanefeld F.,
Jaspers N. G. J.,
Baan C.,
Magdorf K.,
Kunze J.,
Sperling K.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb04260.x
Subject(s) - ataxia telangiectasia , complementation , nijmegen breakage syndrome , microcephaly , genetics , chromosome instability , genetic disorder , medicine , dermatology , biology , dna , chromosome , dna damage , gene , phenotype
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 identical with the case described by Conley et al. (1986).