Complex cytogenetic rearrangement in a case of unicameral bone cyst

Cytogenetic analysis of a unicameral bone cyst surgically resected in an 11-year-old boy revealed a highly complex clonal structural rearrangement involving chromosomes 4, 6, 8, 16, 21, and both 12. These findings reinforce the need for further studies on unicameral bone cysts to verify the frequency and to understand the significance of chromosome anomalies in this type of lesion.

Analysis of human papillomavirus prevalence and TP53 polymorphism in head and neck squamous cell carcinomas

Head and neck squamous cell carcinoma is a disease associated with tobacco and alcohol abuse. There is evidence that the oncogenic human papillomavirus (HPV) may also be a risk for upper aerodigestive tract cancers. High-risk HPVs encode two early proteins, E6 and E7, that can bind to p53 and pRb, respectively, and induce its degradation or inactivation. The TP53 gene has a single polymorphism at codon 72 of exon 4 that encodes either arginine (Arg) or proline (Pro). The purpose of this study was to evaluate the role of HPV infection and TP53 polymorphism in head and neck cancer. We analyzed 50 tumors, as well swabs of oral mucosa front 142 control individuals, with a polymerase chain reaction technique. The prevalence of HPV in controls was 10.6% and in cancer specimens 16%. The frequency distribution of genotypes in controls was 50% Arg/Arg, 43% Arg/ Pro and 7% Pro/Pro; in tumors, it was 52% Arg/Arg, 32% Arg/Pro, and 16% Pro/Pro. Contrary to the results of some studies on cervical cancer, no association between any TP53 genotype or allele and the development of head and neck cancer was observed, regardless of HPV status, except for the Pro/Pro genotype, which is associated with the absence of HPV. The arginine allele appears to protect against head and neck cancers. Also, the data showed that HPV infection results in no increased risk of developing head and neck tumors. (C) 2004 Elsevier B.V. All rights reserved.

Intriguing evidence of translocations in Discus fish (Symphysodon, Cichlidae) and a report of the largest meiotic chromosomal chain observed in vertebrates

As part of a program to understand the genetics of Amazonian ornamental fish, classical cytogenetics was used to analyze Symphysodon aequifasciatus, S. discus and S. haraldi, popular and expensive aquarium fishes that are endemic to the Amazon basin. Mitotic analyses in Symphysodon have shown some odd patterns compared with other Neotropical cichlids. We have confirmed that Symphysodon species are characterized by chromosomal diversity and meiotic complexity despite the fact that species share the same diploid number 2n = 60. An intriguing meiotic chromosomal chain, with up to 20 elements during diplotene/diakinesis, was observed in S. aequifasciatus and S. haraldi, whereas S. discus only contains typical bivalent chromosomes. Such chromosomal chains with a high number of elements have not been observed in any other vertebrates. We showed that the meiotic chromosomal chain was not sex related. This observation is unusual and we propose that the origin of meiotic multiples in males and females is based on a series of translocations that involved heterochromatic regions after hybridization of ancestor wild Discus species. Heredity (2009) 102, 435-441; doi: 10.1038/hdy.2009.3; published online 25 February 2009

Multiple cytogenetic clones in a basal cell carcinoma

Chromosome analysis of short-term culture of a basal cell carcinoma showed five clonal chromosome abnormalities, t(9;14)(q12 or q13;p11), del(1)(q23 or q25), trisomy 5, trisomy 7, and monosomy X. In addition, several nonclonal structural and numerical changes were seen in the tumor cells.

Cytogenetic analysis of a multinodular thyroid goiter

Short-term cultures of a collagenase disaggregated multinodular goiter was shown by cytogenetic analysis to have the mosaic karyotype 47,XX,+7/48,XX,+7,+17/49,XX,+7,+10,+17. No cytogenetic data on goiter are available for comparison with the present case.

Translocation (4;14) and concomitant inv(14) in a basal cell carcinoma

Chromosome analysis of short-term cultures from a basal cell carcinoma was performed. The analyzed karyotypes showed a pseudodiploid clone characterized by a der(4)t(4;14)(p14;p11) and a concomitant inversion of the same chromosome 4 involved in the t(4;14) with the breakpoints at p14 and q25.

Fish cytogenetic research: Advances, applications and perspectives

Methods developed since 1976 for harvesting, preparing and banding fish chromosomes are now commonly used for taxonomic and phylogenetic studies, genetic control and chromosome manipulations in fish breeding and in monitoring aquatic pollutants by examining chromosomal aberrations. These studies have chiefly concerned common temperate freshwater species; the same procedures, when applied to marine and coldwater fish, often provide unsatisfactory results, especially in cell culture. A concerted effort should be made in marine fish, and to develop molecular cytogenetic methods to provide a more powerful tool to study chromosomal evolution. © 1991 BRILL.

Cytogenetic findings in two basal cell carcinomas

We describe the cytogenetic study of two basal cell carcinomas. Only single chromosomally abnormal clones could be detected in both. In addition, many nonclonal changes were seen in the samples, which may represent small neoplastic clones or the result of a basic molecular defect induced by carcinogens.

Karyotype and NOR conservatism with heterochromatin reorganization in Neotropical Bryconids

Cytogenetic studies on Bryconid fishes have shown the occurrence of karyotype and NOR conservatism and heterochromatin reorganization. The present data on three species representative of the migratory genus Brycon corroborate the hypothesis according to which conservative patterns of karyotypic evolution can be related to high levels of vagility and large populational size in Neotropical freshwater fishes.

Molecular evidence of ribosomal DNA (rDNA) amplification of a minichromosome derived from Drosophila arizonae in D. mulleri-D. arizonae hybrid males

We present data supporting cytogenetic observations on nucleolar dominance in hybrids between Drosophila arizonae and D. mulleri. Our approach was to compare the rDNA restriction patterns between the parental species and their hybrids. Results demonstrated that the minichromosome attached to the nucleolus in hybrid males is derived from D. arizonae.

Fluorescence in situ hybridization with rDNA probes on chromosomes of two nucleolus organizer region phenotypes of a species of Eigenmannia (Pisces, Gymnotoidei, Sternopygidae)

Nucleolus organizer regions (NORs) were analysed in two related and geographically close populations of Eigenmannia sp.1 (Pisces, Gymnotoidei, Sternopygidae) using silver staining and fluorescence in situ hybridization (FISH). The two populations differed in their AS-NOR phenotypes, displaying fixed differences in the NOR-bearing chromosome pairs. FISH with rDNA probes showed that these differences were due to the location of rDNA cistrons. This finding, showing fixed NOR differences between two populations belonging to the same species in a connected river system, is highly significant in terms of evolutionary change, possibly indicating an initial step of genetic differentiation. This result also has important implications from the cytosystematic point of view, as NORs usually have a very constant karyotypic location in fish species and have been used as species-specific chromosome markers.

Human chromosome aberrations induced in vitro by Paracoccidioides brasiliensis glycoproteic component (GP 43)

The in vitro cytogenetic effects of the 43-kDa molecular mass exocellular glycoproteic component (GP 43) from Paracoccidioides brasiliensis were studied in cultures from human lymphocytes. The sample included 10 healthy, white, non-smoking, non-related males (mean age of 31.3 ± 8.2 years). Besides the control, three concentrations of GP 43 (0.125, 1.25 and 5 μg/ml) were used. In each group, around 1000 cells were examined in search of chromosome aberrations, and 30,000 metaphases were analysed for the determination of the Mitotic Index. The authors conclude that GP 43 most probably causes inhibition of the cell cycle and aneugenic and clastogenic effects.

Increased B chromosome frequency and absence of drive in the fish Prochilodus lineatus

The neotropical freshwater fish species Prochilodus lineatus (Pisces, Prochilodontidae) shows 2n = 54 chromosomes plus supernumerary microchromosomes ranging in number from zero to seven among different animals. The transmission rates of B chromosomes were studied by the analysis of the parental and F1 generations in 10 controlled crosses performed with specimens from a natural population. The mean transmission rate observed for B chromosomes (k(B) = 0.511) was consistent with that expected from a regular meiotic behaviour orbs in both sexes and with the theoretical value under a Mendelian mode of transmission (0.5). Possible explanations for the dramatic increase in B frequency observed in this population during the last 10 years are discussed, bearing in mind the current absence of drive.

Cytogenetic evaluation of 20 primary breast carcinomas

Chromosome analysis was performed on samples from 20 Brazilian patients with breast cancer. All the samples were from untreated patients who presented the clinical symptoms for months or years before surgical intervention. Six cases showed axillary lymph node metastases. Clonal chromosome abnormalities were detected in all cases. The numerical alterations most frequently observed involved the loss of chromosomes X, 19, 20, and 22 followed by gain of chromosomes 9 and 8. Among the structural anomalies observed, there was preferential involvement of chromosomes 11, 6, 1, 7, 3, and 12, supporting previous reports that these chromosomes may harbour genes of importance in the development of breast tumors. Two cases with a family history of breast cancer had in common total or partial trisomy 1.

Chromosome numbers of some Brazilian species of diplopods (Diplopoda, Arthropoda)

The present paper presents the chromosome numbers of five brazilian species of diplopods: Plusioporus setiger (2n = 10 and 2n= 10+ lB, the distinction of the sexual pair was not possible), Pseudonannolene ophiulus (2n=12, XY), Pseudonannolene halophila (2n=16, XY), Rhinocricus sp. (2n=28, XY) and Rhinocricus padbergi (2n=20, the distinction of the sexual pair was not possible).