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S Scappaticci

Publications and source records attributed to S Scappaticci.

At least 37 records · Page 2Linked to original sources
PubMed1991

Chromosome abnormalities in lymphocytes and fibroblasts of subjects with multiple endocrine neoplasia type 1.

A consistent degree of chromosome instability was found in cultured lymphocytes and in fibroblasts derived from skin biopsies of three patients with multiple endocrine neoplasia type 1 (MEN1). In both tissues, there was a significant increase in chromosomal breakage. Dicentrics and tricentrics, rings, translocations, deletions, acentric fragments, and presumptive double minutes were the most frequent abnormalities in lymphocytes. The fibroblasts of two patients had large clones consisting of trisomy 7 and trisomy 18 cells, respectively.

Adult↗
PubMed1990

Clonal structural chromosomal rearrangements in lymphocytes of four patients with Werner's syndrome.

Multiple numerical and structural chromosome abnormalities were found in cultured lymphocytes of four patients with Werner's syndrome. The proportion of metaphases with structural and/or numerical aberrations varied from 30 to 44% and several of them were clonal. These results confirm definitively that Werner's syndrome is a chromosome rearrangement syndrome and that these non-constitutional chromosome changes are not exclusive of cultured fibroblasts but present also in lymphocytes.

Adult↗
PubMed1989

Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli.

Clonal chromosome abnormalities were found in cultured fibroblasts from three sibs and one sporadic case with porokeratosis of Mibelli. Chromosome 3 especially involved region p12-14. This region includes the most common fragile site in humans, and the proximal region of chromosome 3 short arm is involved in a variety of neoplastic conditions. We conclude that porokeratosis of Mibelli, an autosomal dominant disorder, is associated with chromosomal instability. Porokeratosis of Mibelli is known to also be associated with increased susceptibility to malignant disease. The chromosome instability may well predispose to malignancy.

Aged↗
PubMed1989

Chromosome instability in lymphocytes from a patient with Werner's syndrome is not associated with DNA repair defects.

Different cellular parameters used to detect genetic instability were analyzed in lymphocytes from a patient affected by Werner's syndrome (WS). Cytogenetic studies indicated the presence of structural and numerical chromosomal abnormalities and the occurrence of variegated translocation mosaicism. The baseline mutation frequency was similar to that observed in normal donor samples. DNA repair investigations showing a normal capability to perform UV-induced DNA repair synthesis and a normal sensitivity to various mutagens (UVC light, mono- and bi-functional alkylating agents) indicate that different DNA repair mechanisms act normally in WS. In this feature, WS appears to differ from the other genetically determined syndromes in which chromosomal instability is associated with a marked hypersensitivity to specific DNA-damaging agents.

Cells, Cultured↗
PubMed1989

[Werner's syndrome and intracranial meningioma].

A case of Werner's Syndrome in a 47-year-old man, with typical features of progeria associated with intracranial meningioma is described. A revision of the literature showed that meningioma is the most frequent benign neoplasm in Werner's Syndrome. Meningioma is a peculiar model of neoplasm, because of the frequency of cytogenetical aberrations concerning chromosome n. 22. Either chromosome n. 22 and other chromosomal alterations could be detected in peripheral blood lymphocytes of our patient. These findings suggest a correlation between chromosomal instability and the onset of neoplasms in Werner's Syndrome. Furthermore, the possibility of detecting chromosome n. 22 aberrations in peripheral blood lymphocytes of Werner's Syndrome patients could provide a clue to the presence of a meningioma at a preclinical stage.

Humans↗
PubMed1988

Chromosome abnormalities in tuberous sclerosis.

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.

Adolescent↗
PubMed1986

Chromosomal aberrations in lymphocyte and fibroblast cultures of patients with the sporadic type of Kaposi sarcoma.

Numerical and structural chromosomal aberrations were found in metaphases from lymphocyte cultures from Sardinian patients with the sporadic type of Kaposi sarcoma, and also in fibroblasts derived from cultured biopsies of the tumoral lesions. In several cases there was evidence of clonal evolution of some of the chromosomal aberrations. The chromosomes most frequently involved in numerical aberrations were 10, 13, 15, 22 and the X and Y chromosomes, and those most frequently involved in translocations and deletions were 7, 13, 15, 22 and the X chromosomes. The hypothesis is made that in Kaposi sarcoma the chromosomal instability and clonal evolution in vivo could be modulated by the immunologic situation peculiar to the condition.

Aged↗
PubMed1982

Clonal structural chromosomal rearrangements in primary fibroblast cultures and in lymphocytes of patients with Werner's Syndrome.

The cytogenetics of six cases of adult progeria (Werner's syndrome) from three Sardinian families were investigated. The overall increased incidence of chromosome breakage found in cultured lymphocytes and fibroblasts seems to be age-dependent. The occurrence of clonal variegated translocation mosaicism, previously found by other authors in fibroblast cell lines derived from Werner patients was demonstrated also in fibroblasts analyzed in situ on the outgrowth halos from primary skin explants; a strong indication that these aberrations are present in the in vivo precursors. The same type of clonal structural aberration was found for the first time also in 72h-cultured lymphocytes. These findings demonstrate that Werner's syndrome is indeed a further example of a chromosome rearrangement syndrome.

Adult↗