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: N Tommerup, E Mortensen, M H Nielsen, R D Wegner, D Schindler, M Mikkelsen
• Journal: Human genetics (Hum Genet) Vol. 92 Issue 4 Pg. 339-46 (Oct 1993) ISSN: 0340-6717 [Print] Germany
• PMID: 7693575 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Bleomycin
• DNA
• Triaziquone

Topics

• Adult
• Bleomycin (adverse effects)
• Chromosome Aberrations
• Consanguinity
• Craniosynostoses (genetics)
• DNA (biosynthesis)
• Drug Hypersensitivity (etiology, genetics)
• Female
• Humans
• Infant
• Lymphocytes
• Male
• Microcephaly (genetics)
• Mitosis (genetics)
• Multigene Family
• Mutation
• Triaziquone (adverse effects)