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F Pasquali

Publications and source records attributed to F Pasquali.

At least 73 records · Page 4Linked to original sources
PubMed1983

Masked Philadelphia chromosome caused by translocation (9;11;22).

In a patient with chronic myelocytic leukemia (CML), chromosome analysis revealed a translocation involving chromosomes No. 9, 11, and 22, with three break points, thus giving origin to a so-called "masked" Philadelphia chromosome (Ph1). A review of similar cases reported in the literature indicates that a masked Ph1 is very rare, that the chromosomes involved vary from case to case, and that in most cases the pattern of the rearrangement is quite different from that of two- and three-chromosome variant Ph1 translocations.

Chromosomes, Human, 21-22 and Y↗
PubMed1983

Gene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders.

The demonstration of a gene dosage effect in a neoplastic cell with a specific chromosome abnormality could be helpful in the study of some pathogenetic steps of the malignant growth. We tested the activities of beta-glucuronidase (GUSB), whose gene is mapped on chromosome 7 and of Arylsulphatase A (ARSA) and beta-galactosidase (GLB) as control lysosomal enzymes, whose loci are not assigned to number 7, in a group of 10 patients with myeloproliferative disorders associated with monosomy 7. A significant difference of the levels of activity of GUSB in monosomy 7 cells was found in comparison with two groups of controls, one of healthy subjects, the other of patients with similar disorders without monosomy 7. These results indicate the presence of a gene dosage effect for GUSB.

Anemia, Sideroblastic↗
PubMed1982

Duplication of the short arm of chromosome 9. Analysis of five cases.

Five females with duplication of the short arm of one chromosome 9 are reported, one tetrasomic and four trisomic for 9p. The tetrasomy is due to an isochromosome 9p while the trisomies are due in one case to an intrachromosomal duplication present in lymphocytes but not in fibroblasts, two are secondary to translocations with chromosomes 22 and 13 respectively, and one is a mosaic with a cell line with an additional deleted chromosome 9 present in lymphocytes and fibroblasts. This analysis indicates that duplications 9p may result in impairment of ovarian function. The phenotypic differences between trisomy and tetrasomy 9p are discussed.

Abnormalities, Multiple↗
PubMed1982

Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases.

Monosomy 7 is frequent in acute myeloid leukaemia (AML) and in preleukaemic dysmyelopoietic syndromes but often it is not the only chromosome anomaly associated with these conditions. We report 14 patients with "pure" monosomy 7 and their clinical and haematological data are analysed in order to clarify the possible implications of this chromosome anomaly. The following points are considered: 1) In spite of the apparent variability of clinical forms in which monosomy 7 is found, several characteristics are common to all monosomy 7 patients, i.e. the presence of a preleukaemic phase and blood and marrow features suggesting the early involvement in the disease of all marrow cell lines. The different diagnoses associated with monosomy 7 are correlated with different steps of a unique myeloproliferative disease whose typical course can be reconstructed. 2) Monosomy 7 has a negative prognostic value. When it is found in a preleukaemic disorder it indicates a high risk of progression to AML, while in AML it implies recurrent infections, poor response to therapy and short survival. 3) The significance of the lack of Colton blood group antigens in monosomy 7 patients is discussed, with particular regard to the fact that the patients in whom this lack was found are the only ones who had not received transfusions in the months before the tests were done. 4) The finding of defective neutrophil chemotaxis in monosomy 7 patients is confirmed and the clinical importance of this fact is emphasized. 5) The data on the 14 patients support the opinion that AML, in general, is heterogeneous in origin. It is postulated that monosomy 7 is a marker of a specific pathogenetic pathway of AML, which implies the beginning of the malignancy in a pluripotent stem cell.

Adult↗
PubMed1982

The isochromosome (17q) in chronic myelocytic leukaemia: mechanism of origin, centromeric function and clonal evolution.

An isochromosome (17q) may be observed in myelo- and lymphoproliferative disorders, as well as in solid tumours and it is very frequent in Ph1-positive chronic myelocytic leukaemia (CML) during the blastic phase. A study on the mechanism of origin and on the centromeric function of the i(17q)s was performed by means of the C- and Cd-staining techniques in four CML patients. In all these cases, as well as in four others reported in the literature, the i(17q) is dicentric thus indicating that its origin is due to a break on the short arms followed by joining of the two chromatids containing the centromere. The Cd-technique indicates that one of the two centromeres is inactive: this result is consistent with the fact that the i(17q) in CML is a step in the clonal evolution towards the acute phase.

Adolescent↗
PubMed1981

Isochromosome (17q) in Philadelphia chromosome (Ph1)-negative juvenile chronic myelocytic leukemia.

A dicentric isochromosome of the long arm of one chromosome #17 was the only abnormality present in a 12-year-old boy with Philadelphia chromosome (Ph1)-negative juvenile chronic myelocytic leukemia. This association does not seem to have been reported in the literature. It is postulated that the finding of an isochromosome (17q) may also have a negative prognostic value in the Ph1-negative type of chronic myelogenous leukemia.

Bone Marrow↗
PubMed1979

Transposition of 9q34 and 22 (q11toqter) regions has a specific role in chronic myelocytic leukemia.

Six cases are reported of variant Ph' translocations found among 240 patients with Ph'-positive CML. Five cases had a three-chromosome rearrangement involving, in addition to chromosomes 9 and 22, chromosomes 7, 4, 2(two), and 3, respectively, and one case had a two-chromosome rearrangement 22/5. A review of the literature revealed that three- and two-chromosome variant Ph' translocations are observed with equal frequency. It is postulated that all variant translocations are indeed three-chromosome rearrangements, that the specific event for the formation of the Ph' chromosome is the reciprocal translocation 9/22, and that the transposition of regions 9q34 and 22 (q11toqter), plays a major role in the development of CML.

Adult↗
PubMed1979

Partial trisomy 1 due to 1/17 translocation in Ph'-positive chronic myelocytic leukemia.

A patient with chronic myelocytic leukaemia (CML) had the Philadelphia chromosome from the standard 9/22 translocation, a partial trisomy 1 secondary to an unbalanced 1/17 translocation, and a more recent clone with the addition of trisomy 22. This is the third case of partial trisomy 1 associated with the Philadelphia chromosome. Trisomy 1 in haematological disorders is discussed with reference to its clinical significance in CML, the segment of chromosome no. 1 involved, and the mechanism of origin of the partial trisomies. Anomalies of chromosome 1, although not specific to any of them, seem to be important in the development of myeloproliferative disorders and of neoplasms in general.

Chromosomes, Human, 1-3↗
PubMed1978

Three chromosomes' (7;9;22) rearrangement and the origin of the Philadelphia chromosome.

A woman with chronic myelocytic leukemia had the Philadelphia chromosome and a complex four-break--three-chromosome rearrangement. The q32 leads to q34 portion of chromosome 9 is translocated to band q22 of chromosome 7, and at the end of this segment is attached the deleted q11 leads to qter portion of chromosome 22. A review of 12 cases of the Philadelphia chromosome originating by the rearrangement of three or more chromosomes reveals that chromosomes 9 and 22 are always involved, while the third chromosome is a different one in each case. We discuss the hypothesis that the 22q segment is always specifically attached to band 9q34 wherever this portion of 9q is transposed.

Aged↗
PubMed1977

Women heterozygous for deficiency of the (p21 leads to pter) region of the X chromosome are fertile.

A woman balanced carrier of a X/15 translocation gave birth to a balanced infertile son and three unbalanced Xp--fertile daughters. This family and the other eleven cases of Xp--fertile women found in the literature demonstrate that loss of the p21 leads to pter region of the X chromosome is compatible with fertility, probably because it leaves on Xp the region which is never inactivated.

Adult↗
PubMed1977

Immunodeficiency in Down's syndrome: relationship between presence of human thyroglobulin antibodies and HBsAg carrier status.

The relationship between the presence of hepatitis B surface antigen (HBsAg) and antibodies to human thyroglobulin (HTgAb) has been studied in 110 subjects with Down's syndrome (DS) from 4 months to 50 years of age and in 122 controls carefully matched for sex, age and socio-environmental conditions. The overall percentage of HBsAg carriers was 22.7 in DS and 6.6 in controls and that of HTgAb-positive subjects was 41.8 in DS and 19.7 in controls. In DS the frequency of HTgAb-positive subjects was very high, even in the youngest age groups in which the percentage of HBsAg carriers was relatively low; the latter thereafter showed a marked increase with age. A positive association between the presence of HBsAg and HTgAb was found only in the oldest age group of DS subjects. It is thus concluded that in DS the high frequency of HTgAb cannot be attributed to chronic hepatitis B virus infection. On the contrary, the presence of HTgAb might well represent an early "marker" of immunodeficiency and increased susceptibility to infection with hepatitis B virus.

Adolescent↗