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I Magnani

Publications and source records attributed to I Magnani.

25 records · Page 2Linked to original sources
PubMed1991

Karyotypic characterization of a new human embryonal rhabdomyosarcoma cell line.

Chromosomal analysis of an advanced recurrent rhabdomyosarcoma of the embryonal type was performed on cell cultures in the 9th passage of in vitro cultivation. This tumor showed a modal karyotype of 54 and was characterized by multiple numerical and structural chromosome abnormalities, all present in high frequencies. Abnormalities observed in 100% of the cells included a der(1) chromosome with a short unidentified insertion between q31 and q32; a der(1) chromosome, arising from insertion at the same breakpoint of a longer segment with a duplicated 1q31 band and translocation of 13q23----qter to 1p36, a deleted tetrasomic 13q23----qter, and a der(4) chromosome showing 1p36----pter translocated to 4p13. Other common abnormalities included trisomy of chromosomes 8, 13, and 9p, deletions of chromosomes 6, 10, 11, and 12, and presence of marker chromosomes. Characterization of the established line at the 38th passage evidenced the persistence of both the modal karyotype and all the numerical and structural abnormalities previously found. The results of this study provide further evidence of the major involvement of alterations in chromosome 1 in the progression of rhabdomyosarcoma.

Child↗
PubMed1989

Malformation syndrome with t(2;22) in a cancer family with chromosome instability.

A de novo unbalanced t(2;22)(q37;q11.2) [corrected], resulting in the deletion of the 22pter-q11 and 2q37-qter regions, was observed in a 12-year-old girl born with a congenital malformation syndrome and later displaying signs of neurologic impairment. Some of the clinical signs observed appear to overlap those found in subjects monosomic in the 22q11 region affected by the DiGeorge syndrome. The chromosomal rearrangement observed may be related to a familial cytogenetic instability that also gives rise to sustained cancer predisposition.

Abnormalities, Multiple↗
PubMed1987

Chromosomal location by in situ hybridization of the human Sau3A family of DNA repeats.

The Sau3A family is a human, clustered, highly repetitive, GC-rich DNA family. In situ hybridization studies with a plasmid carrying a Sau3A monomer as a probe have shown that Sau3A sequences are preferentially concentrated in the heterochromatic regions of human acrocentric chromosomes (D and G groups, both in pericentromeric regions and in cytological satellites) and in pericentromeric heterochromatin of chromosome 1. The same chromosomal locations were observed by using as probes two recombinant phages which carry Sau3A-positive genomic sectors. The two sectors differ for the relative proportions of monomer and multiples of Sau3A repeats, which show different extents of homology to the cloned monomer, and for the presence, in one of the two, of a small amount of an unrelated repeat (alphoid DNA). The similarity of the results obtained with the three probes suggests that heterogeneous Sau3A repeats share the same chromosomal localizations and that the two analyzed genomic sectors may not contain significant amounts of repetitive DNAs other than the Sau3A family. A comparison between the chromosomal locations of Sau3A and EcoRI families of repeats has confirmed that each family is characterized by specific chromosomal locations and that single heterochromatic regions may contain both.

Centromere↗
PubMed1987

Cytogenetic instability in a family with gastric cancer recurrence.

An index case with a congenital malformation syndrome enabled detection of a family that had a previous history of spontaneous abortuses and recurrence of neoplasia through three generations. Cytogenetic analysis performed on lymphocytes from 11 subjects in the second and third generation showed karyotypic alterations in both tumor bearers and apparently normal subjects. Chromosome variations consisted of: spontaneous chromosome fragility; chromosome translocations; polymorphisms in the heterochromatic regions in chromosomes Y, #1, #16, #22. The inheritance pattern of all chromosome rearrangements and heteromorphisms observed was established starting with the second generation, and the contribution of specific individuals was identified. Although the relationship between chromosomal instability and predisposition to gastric cancer does not appear to be coincidental, no specific chromosome alteration in normal somatic cells was shared by all members of the family who developed or are at risk of developing tumors.

Adult↗
PubMedDate not supplied

[Monosomy 9p. Clinical and cytogenetic aspects].

The Authors describe a new case of monosomy 9 p in a newborn, confirmed by bands technique. The parents had a normal karyotypes and this alteration was defined as deletion 9 p "de novo" arisen. The main morphological anomalies are described: these anomalies reproduce that reported by others and, for many aspects, remember Down syndrome. It is very important that the staff of the Neonatological Departments has a good knowledge of this syndrome since for the abnormal objective features, the diagnosis is possible already from the birth.

Chromosome Banding↗
PubMedDate not supplied

[Partial trisomy 9q: description of a new case].

The authors describe one case of partial 9q trisomy they observed. The malformations they observed are correspondent to the very little amount of existing documented cases. And just because we have only a few observations, we thought useful publishing this case, to better define the clinical features among the alterations of chromosome 9 (trisomy 9 p and 9q). Head, neck, bones, heart and urogenital apparatus seen to be the most frequently involved in the phenotypic expression of the 9q trisomy.

Chromosome Aberrations↗