Chromosome abnormalities in tuberous sclerosis (original) (raw)
Summary
In fibroblasts cultured from biopsies of the skin lesions of six patients with tuberous sclerosis (TS) there was a variable but consistent degree of karyotypic variation. Premature centromere disjunction (PCD) of all or part of the chromosomes, micronuclei, an increased incidence of breaks, dicentric chromosomes and the presence of polyploid metaphases were found in all cultures. The PCD was of the type encountered in Roberts syndrome and its frequency varied from 8% to 30%. In metaphases with PCD of one and of two chromosomes, the chromosome involved were identified, and chromosome 3 was involved 21 times among 59 chromosomes with PCD. Chromosome 3 tends to be preferentially involved in dicentric formation. In lymphocyte cultures from the same patients there were no metaphases with PCD, but there was a slight increase of breaks and the presence of dicentric chromosomes, also involving chromosome 3. Polyploid metaphases were increased in some of the cases. Karyotypic variation can be considered a cellular phenotypic characteristic of TS in fibroblasts cultured from the skin lesions, and its type indicates disturbances in the mechanics of centromere division and of chromosome distribution at cell division.
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Authors and Affiliations
- Biologia Generale e Genetica Medica, Università di Pavia, C.P. 217, 1-27100, Pavia, Italy
Susi Scappaticci & M. Fraccaro - Clinica Dermosifilopatica, Università di Sassari, I-07100, Sassari, Italy
D. Cerimele - Istituto di Neuropsichiatria Infantile, Università di Sassari, I-07100, Sassari, Italy
M. Tondi - Clinica Pediatrica, Università di Siena, I-53100, Siena, Italy
Rossella Vivarelli & A. Fois
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- Susi Scappaticci
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Scappaticci, S., Cerimele, D., Tondi, M. et al. Chromosome abnormalities in tuberous sclerosis.Hum Genet 79, 151–156 (1988). https://doi.org/10.1007/BF00280555
- Received: 19 November 1987
- Issue Date: June 1988
- DOI: https://doi.org/10.1007/BF00280555