Cancer Genet Cytogenet
March 1999
Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus D1Z2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization.
View Article and Find Full Text PDFDown syndrome (DS) children have a 10-20-fold increased risk of developing ALL or AML compared to non-DS children. An increased disomic homozygosity of the polymorphic DNA markers in the pericentromeric region of chromosome 21q (21q11) has repeatedly been found in DS patients with ANLL-M7 and DS-specific transient abnormal myelopoiesis (TAM), compared to the majority of DS subjects without leukaemia. Analysis of cytogenetic heteromorphisms and 26 polymorphic DNA markers from chromosome 21q showed an increased number of pericentromeric crossovers between the non-disjoined chromosomes in DS-ANLL cases (3/11), compared to DS-ALL (0/9) and DS-nonleukaemic cases (0/12).
View Article and Find Full Text PDFDeletion of chromosome 1p and MYCN amplification have been reported as frequent abnormalities in human neuroblastoma. We studied loss of heterozygosity (LOH) in 50 (48 informative) Italian neuroblastoma patients by restriction fragment length polymorphisms (RFLPs) analysis using anonymous and hypervariable region (HVR) sequences. Twelve cases (25%) showed LOH at one or more loci.
View Article and Find Full Text PDFGenes Chromosomes Cancer
September 1996
Human neuroblastoma (NB) is characterized genetically by deletions of the short arm of chromosome I and by MYCN amplification. Loss of heterozygosity (LOH) has been found frequently for region 1p36. We have studied restriction fragment length polymorphisms (RFLPs) by using anonymous and hypervariable region (HVR) sequences to demonstrate LOH for 1p loci in 50 Italian neuroblastoma patients.
View Article and Find Full Text PDFStarting from a survey of the studies on familial aggregation of colorectal cancer, we introduce the aims of genetic epidemiology. One of its main goals is to assess population frequency of cancer susceptibility genes and to determine the age-specific risks for carriers with respect to non-carriers. In section two, segregation analysis investigations are reviewed, and inferences on the relevance of genetic components of susceptibility to colorectal cancer are drawn.
View Article and Find Full Text PDFWe present the cytogenetic pattern of a leukemic infant with Diamond-Blackfan anemia (DBA). The karyotype was characterized by clonal evolution involving consecutive gains of chromosome 21 up to pentasomy. No chromosomal changes were present in normal lymphocytes.
View Article and Find Full Text PDFMolecular epidemiology may help fill the gap between epidemiological and biological models for cancerogenesis, allowing useful comparisons between series of cases carrying different biological characteristics. The defective regulation of immune responses is probably the common basis of cancer origin in genetically determined immune deficiency (GDID). Lymphomas are the most common neoplasms, showing an extremely high incidence in early age, frequent unusual location (extra-nodal) and histology, and rapid progression and spread with little response to therapy.
View Article and Find Full Text PDFIn a series of 156 females and 149 males with a Down syndrome (DS) child, a case-control study was performed to evaluate the effect of abdominal-pelvic exposure to diagnostic x-rays prior to conception on nondisjunction (ND). Cytogenetic analysis using QFQ banding allowed unequivocal identification of ND parents as cases. Partners of ND parents were treated as control group.
View Article and Find Full Text PDFAm J Med Genet Suppl
April 1991
To test the hypothesis that meiotic nondisjunction may be caused by reduced chiasma frequency, hence recombination, we investigated 60 families with a trisomic child affected with Down syndrome (DS). We analyzed cytogenetic heteromorphisms (CH) and a number of restriction fragment length polymorphisms spanning regions 11.1 through 22.
View Article and Find Full Text PDFAm J Med Genet Suppl
April 1991
As the knowledge of parental origin and meiotic stage of nondisjunction is the prerequisite to evaluation of the possible etiological factors in trisomy 21, we have examined 343 families with at least one Down syndrome child. Of these, 322 were primary trisomies, including 24 mosaics, and 21 were structural rearrangements. This study was carried out by analysing chromosome 21 cytogenetic heteromorphisms and molecular RFLPs.
View Article and Find Full Text PDFWhile AIDS (Acquired Immunodeficiency Syndrome) certainly represents a worldwide health problem, the attention of many researchers and epidemiologists, besides the WHO itself, has recently focused on Africa for the following reasons: 1) The etiologic agent of AIDS, the Human Immunodeficiency Virus (HIV) (previously named HTLV-III or LAV) is likely to have originated in Africa. Solid evidence has been accumulated that antibodies against HIV were present in African sera collected in the early 1960s. In the same period widespread infection by viruses strictly related to HIV has been documented in primates living in tropical Africa.
View Article and Find Full Text PDFSeveral studies have attempted to define the role of parental age in determining the prevalence of 47, +21 according to the origin of nondisjunction. This report analyzes the original data of 197 informative families from Italy and reviews the available literature (96 families from Denmark and 201 from other countries). Mothers whose gametes showed nondisjunction are treated as cases, and those with normal meiosis as controls within each study.
View Article and Find Full Text PDFQ- and C-banded karyotypes of leukemic cells of a patient with congenital acute lymphoblastic leukemia showed the karyotype: 46,XX,ins(6;1)(p21;p13p36). This rearrangement is unusual, and the breakpoints on chromosome 1 are interestingly close to known cellular oncogenes (N-ras, fgr, src-2) and to a putative antioncogene.
View Article and Find Full Text PDFCongenital leukemia is a rare disease accounting for about 1% of all leukemias in childhood. While cases associated with Down's syndrome not infrequently show a spontaneous regression, such an event is very rare in non-Down cases and exceptional in those (among the latter) which present clonal cytogenetic alterations in the neoplastic cells. We present the case of a patient with congenital leukemia and an abnormal karyotype (limited to the neoplastic clone), in which an apparently spontaneous and prolonged remission occurred after a relapse.
View Article and Find Full Text PDFAnticancer Res
September 1987
A short-term in vitro chemosensitivity test has been applied to 131 specimens from 109 children with various malignancies. The clinical outcome was correlated with in vitro percentage inhibition (PI) of DNA synthesis by the drug tested. In 62 correlations, PIs of responsive and of resistant patients differed significantly, with a cut-off value of 37%.
View Article and Find Full Text PDFInt J Health Serv
August 1982
The rapid industrialization of world agriculture has been one of the most eventful social and economic transformations taking place in the second half of the 20th century. Today two agricultures coexist in most countries: capital-intensive agri-business and labor-intensive subsistence farming. In the U.
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