A clonal t(9;12)(q32;q21) in cultured fibroblasts from a case of Bowen's disease.
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Aged↗
Biomedical subjects
S Lambiase
Publications and source records attributed to S Lambiase.
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↗
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
A child with ambiguous genitalia had an XX/XY karyotype in all tissues examined. Analyses of 11 informative polymorphisms, both chromosomal and genetic (Rh and HLA), showed no difference between the two cell lines. It is unlikely that the child originated from fertilisation of the egg and the second polar body by two sperms; therefore, we hypothesise that the child originated from an XXY zygote after mitotic errors during cleavage. Recent findings of differences in the chromosome constitution between the extra-embryonic tissues and the fetus support this view.
Disorders of Sex Development↗
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function.
Two previous single case reports from the literature showed the presence or absence of centromeric antigens at the site of the inactive centromeres in one (X;X) and in one (9;11) dicentric chromosome. We studied nine different dicentric chromosomes using anticentromeric antibodies and immunofluorescence techniques. In the four autosomal dicentrics the inactive centromere was consistently positive while the dicentrics composed of two X chromosomes were either positive or negative; one case of (X;Y) dicentric was negative. The results indicate that the X chromosome mode of replication may be involved in the suppression of immunofluorescence at the site of the inactive centromere and that one centromere of the dicentric chromosome may lose its function but conserve some of its antigenic properties. This indicates that not all these antigens play a rôle in the microtubules-centromere interaction.
Cells, Cultured↗
A new chromosome instability disorder.
Chromosome analysis in a 31-year-old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma. Chromosome studies were performed on lymphocytes and fibroblasts and in both tissues a high proportion of metaphases with multiple chromosome aberrations was found. Clonal and sporadic rearrangements, consisting of balanced and unbalanced translocations and dicentric chromosomes were more numerous than chromatid and chromosome breaks. In the lymphocytes the same unbalanced translocation t(8q;21q) was present in about 59% of the metaphases. Rearrangements involving chromosomes 7 and 14, similar to those described in patients with ataxia-telangiectasia were found, but with a lower frequency. Sister Chromatid Exchanges were not increased. Chromosome and chromatid abnormalities were enhanced after exposure of cells to mitomycin C but not after exposure to the radiomimetic drug bleomycin. Clinical and cytogenetic characteristics of the patient are compared with those of syndromes (Ataxia-Telangiectasia and Werner's syndrome) or isolated cases (Weemaes et al. 1981, Sperling 1983, Spinner et al. 1985) whose features are similar to those of our patient. This case might represent a new chromosome instability syndrome due to a recessive mutation.
Adult↗
The Cd technique identifies a specific structure related to centromeric function.
The evidence that the Cd technique identifies the kinetochore was based on the finding that inactive centromeres are C-positive but Cd-negative. The identity between Cd-positivity and centromere function is now confirmed by the reverse procedure: a stable abnormal chromosome is consistently C-negative but Cd-positive at its single centromeric constriction. This demonstrates that the Cd dots are not a relic of C-banding but identify the active centromere.
Centromere↗