title: Chromosomal breakage, endomitosis, endoreduplication, and hypersensitivity toward radiomimetric and alkylating agents: a possible new autosomal recessive mutation in a girl with craniosynostosis and microcephaly.
abstract: A high frequency of spontaneous chromosomal breakage, endomitosis, endoreduplication and hypersensitivity toward both the alkylating agent Trenimon and the radiomimetric drug bleomycin was observed in phytohemagglutinin-stimulated peripheral lymphocytes from a girl with craniosynostosis, microcephaly, ptosis, bird-like facies, and moderate mental retardation. We also observed abnormal chromosomal spiralization and some aspects of abnormal cellular division. Several fruitless attempts were made to establish a cell line. The parents were consanguineous, supporting the existence of a new, rare, autosomal, recessive condition in man. The mutation might involve a gene involved in DNA repair and/or regulation of the mitotic cycle.
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: N
authors.initials: N
authors.lastname: Tommerup
authors.forename: E
authors.initials: E
authors.lastname: Mortensen
authors.forename: M H
authors.initials: MH
authors.lastname: Nielsen
authors.forename: R D
authors.initials: RD
authors.lastname: Wegner
authors.forename: D
authors.initials: D
authors.lastname: Schindler
authors.forename: M
authors.initials: M
authors.lastname: Mikkelsen
mesh_terms: D000328:Adult; D001761:Bleomycin / Q000009:adverse effects*; D002869:Chromosome Aberrations; D003241:Consanguinity; D003398:Craniosynostoses / Q000235:genetics*; D004247:DNA / Q000096:biosynthesis; D004342:Drug Hypersensitivity / Q000209:etiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008214:Lymphocytes; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008938:Mitosis / Q000235:genetics; D005810:Multigene Family; D009154:Mutation; D014228:Triaziquone / Q000009:adverse effects*
chemical_list: D001761:Bleomycin; D004247:DNA; D014228:Triaziquone