A new chromosomal instability disorder confirmed by complementation studies.
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).
Wegner
R D
RD
Institute of Human Genetics, Free University of Berlin, FRG.
Metzger
M
M
Hanefeld
F
F
Jaspers
N G
NG
Baan
C
C
Magdorf
K
K
Kunze
J
J
Sperling
K
K
D001260:Ataxia Telangiectasia / Q000235:genetics*; D002873:Chromosome Fragility; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure; D002897:Chromosomes, Human, Pair 7 / Q000648:ultrastructure; D004247:DNA / Q000096:biosynthesis / Q000187:drug effects / Q000528:radiation effects; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics*
D004247:DNA