Chromosomal instability in a woman with infertility and two unaffected brothers: a new familial chromosomal breakage syndrome?
| Autor: | David Nachbaur, Gerd Utermann, Helga Weirich-Schwaiger, Barbara Utermann, Harald G. Weirich, Hans-Christoph Duba, Elisabeth Sölder |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Infertility medicine.medical_specialty Time Factors Diepoxybutane Biology Dicentric chromosome chemistry.chemical_compound Internal medicine Chromosome instability Genetics medicine Humans Lymphocytes Cells Cultured Micronuclei Chromosome-Defective Genetics (clinical) Aged Chromosome Chromosome Breakage Syndrome Middle Aged medicine.disease Molecular biology Pedigree Endocrinology chemistry Micronucleus test Female Chromatid Micronucleus Infertility Female |
| Zdroj: | Human Genetics. 100:431-440 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050529 |
| Popis: | Repeated chromosomal analysis of peripheral blood lymphocytes and skin fibroblasts from a woman referred for amenorrhoea, streak gonads, hyperthyroidism, adiposity and elevated alpha-fetoprotein levels but no other manifestations of known chromosomal breakage syndromes demonstrated an increased spontaneous chromosomal breakage rate (ISCBR). Chromatid and chromosomal breaks were more numerous than sporadic rearrangements and dicentric chromosomes. Exposure of the cells to mitomycin C, diepoxybutane, X-rays or UV irradiation induced an increase in chromosomal and chromatid abnormalities over that in controls. A micronucleus assay demonstrated an increase in the incidence of formation of micronuclei and the population doubling time of the fibroblasts of the proposita was delayed. Chromosomal analysis was performed on lymphocytes of the parents and of five sibs of the proposita. Two brothers had chromosomal abnormalities identical to those of the patient and elevated alpha-fetoprotein levels, however, without any clinical abnormalities. The parents were affected by only a moderate ISCBR whereas two brothers and one sister were chromosomally normal. The clinical, chromosomal and biochemical findings in this family represent a novel chromosomal instability syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink