title: A new chromosomal instability disorder confirmed by complementation studies.
abstract: 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).
authors.affiliation: Institute of Human Genetics, Free University of Berlin, FRG.
authors.forename: R D
authors.initials: RD
authors.lastname: Wegner
authors.forename: M
authors.initials: M
authors.lastname: Metzger
authors.forename: F
authors.initials: F
authors.lastname: Hanefeld
authors.forename: N G
authors.initials: NG
authors.lastname: Jaspers
authors.forename: C
authors.initials: C
authors.lastname: Baan
authors.forename: K
authors.initials: K
authors.lastname: Magdorf
authors.forename: J
authors.initials: J
authors.lastname: Kunze
authors.forename: K
authors.initials: K
authors.lastname: Sperling
mesh_terms: 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*
chemical_list: D004247:DNA