Interstitial long-arm deletion of chromosome 7 and ectrodactyly

An interstitial deletion of 7q21 was found in a boy with mental retardation, microcephaly, convergent strabismus, micrognathia, genital anomalies, and other findings, including ectrodactyly.

A case of terminal long arm deletion of chromosome 6

A four-year-old girl with deletion of chromosomal band 6q24 → qter is described. Clinical features include growth and psychomotor retardation, microcephaly, convergent strabismus, bulbous nose, long philtrum, short neck and cardiopathy.

New occurrence of a macro B-chromosome in Astyanax scabripinnis paranae (Pisces, Characiformes, Characidae)

Cytogenetic studies performed on 17 specimens (11 females and six males) of Astyanax scabripinnis paranae from the Cascatinha stream showed that this population has 2n = 50 chromosomes (8M + 22SM + 10ST + 10A), two chromosome pairs with NORs and conspicuous C-band positive blocks in the terminal position of the long arm of five chromosome pairs. Three females presented 2n = 51 chromosomes and the extra chromosome was a large metacentric similar in size and morphology to the first chromosome pair in the karyotype. This accessory chromosome was entirely heterochromatic in C-banded metaphases, which permitted its classification as a supernumerary chromosome. Some aspects related to the morphology of such macro B-chromosomes are discussed.

Paracentric inversion involving a NOR-bearing chromosome of rainbow trout (Oncorhyncus mykiss): Electron microscopy studies of the synaptonemal complex

Cytogenetic studies conduced on a sample of 19 specimens of rainbow trout (Oncorhyncus mykiss) showed that 6 presented two chromosomes with a single subterminal AgNOR on the short arms and 13 presented one chromosome with a single subterminal Ag-NOR and a second chromosome with two small subterminal Ag-NORs. Synaptonemal complex studies showed the presence of a pairing failure involving the two lateral elements (LEs) of the NOR-bearing chromosomes only in those specimens with two different NOR-bearing chromosomes, suggesting that the chromosomes with two Ag-NORs originated from a paracentric inversion involving a terminal segment of the original NOR-bearing chromosome. A comparative analysis between three normal and three heterozygous fishes suggest that in the latter group the LEs of the NOR-bearing chromosomes initiate the synaptic process in a more delayed manner, the synapsis develops more quickly, and the nucleolus stays associated with chromosomes for a longer time.

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.

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).

Frequent p53 mutations and occasional loss of chromosome 4 in invasive bladder carcinoma induced by N-butyl-N-(4-hydroxybutil)nitrosamine in B6D2F1 mice

B6D2F1 mice (45/group) were treated with N-butyl-N-(4- hydroxybutyl)nitrosamine (BBN) or uracil as follows: Group 1 received 0.05% BBN in drinking water for the entire experiment, Group 2 received 5 mg of BBN by gastric gavage in 0.1 mL of 20% ethanol twice per week for 10 wk, Group 3 received a 2.5% uracil-containing diet for the entire experiment, and Group 4 was controls (received 0.1 mL of 20% ethanol by gavage twice per week for 10 wk). The surviving mice in Group 1 were killed after week 26 and those in the other groups after week 30. By week 15, three of 11 Group 1 and one of 15 Group 2 mice had bladder carcinoma. By 26 and 30 wk, respectively, invasive carcinomas were observed in 33 of 34 and six of 21 mice in Groups 1 and 2 and renal pelvic carcinomas in 11 of 34 and three of 21 mice in Groups 1 and 2. Four of 19 uracil-treated mice had bladder nodular hyperplasia. By polymerase chain reaction-single-strand conformation polymorphism and sequence analyses, 16 of 20 and two of five bladder carcinomas from Groups 1 and 2, respectively, showed mutations in the p53 gene. Ha-ras mutation was present in one case. Loss of heterozygosity analysis with simple-sequence length polymorphism markers for chromosome 4 showed that 10 of 21, two of 15, and nine of 13 mice in Groups 1-3, respectively, had heterozygous or homozygous deletions. B6D2F1 mice are therefore susceptible to the urothelial carcinogenic effects of BBN and develop frequent p53 mutations and chromosome 4 deletions. Chromosome 4 deletions were also seen with uracil.

Clonal chromosome abnormalities found in three non-neoplastic proliferative brain lesions

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

A cytogenetic study of Diplomystes mesembrinus (Teleostei, Siluriformes, Diplomystidae) with a discussion of chromosome evolution in siluriforms

The mitotic chromosomes, nucleolus organizer regions (NORs), C-banding pattern and nuclear DNA content of Diplomystes mesembrinus were studied. The karyotype, with 2n=56 chromosomes (22m+24sm+6st+4a), has a high chromosome arm number (NF = 102), one chromosome pair with NORs, and a very small amount of heterochromatin. The NOR-bearing arm is entirely heterochromatic and exhibits a marked size polymorphism. The diploid DNA content detected in erythrocyte nuclei of D. mesembrinus was 2.57 ± 0.15 pg/nucleus. The chromosome evolution in Siluriformes is discussed on the basis of available cytogenetic data and it is proposed that 2n=56 is synapomorphic for the order.

Chromosome damage induced by 5-azacytidine under the influence of caffeine or cytosine arabinoside in CHO-K1 (wild-type) and XRS-5 (mutant) cell lines

5-azacytidine (5-azaC) treatment combined with cytosine arabinoside (ara-C) or caffeine were performed in vitro in Chinese hamster cells, CHO-K1 (wild-type) and xrs-5 (mutant) cell lines, in order to compare the cell response to the induction of chromosomal aberrations. Exponentially growing cells were treated with 5-azaC (4-16 uM) for 1 h, the cells were washed and incubated for 7 h, and 500 uM caffeine or 5 uM ara-C were added to the cultures for the last 2 h. In both cell lines, 5-azaC induced a significantly increase (P<0.01) in the frequencies of aberrations; in the combined treatments (5-azaC + Ara-C), a significant reduction (P<0.05) was observed for the aberrations which were randomly distributed. Caffeine had no influence at the same conditions. 5-azaC induced-DNA lesions were probably processed at S/G2 phase in a common pathway in both cell lines, but alternatively, 5-azaC may cause xrs-5 cells to revert to the wild-type.

Application of C-banding in two Arachis wild species, Arachis Pintoi Krapov. and W.C. Gregory and A. villosulicarpa Hoehne to mitotic chromosome analyses

Two wild diploid (2n = 20 chromosomes) and self-pollinating Arachis species, Arachis Pintoi Krapov and W.C. Gregory and A. villosulicarpa Hoehne were submmited to C-band technique to karyotype analyses. Root tips were employed in the analyses. Morphometric data chose that chromosome lengths varied from 3.12 in A. villosulicarpa to 1.45 in A. Pintoi. Karyotype formula obtained was 10sm to A. Pintoi and 9sm + 1m to A. villosulicarpa. There was a predominance of pericentromeric C-band in all mitotic metaphasic chromosomes in both species. Besides C-band values, both species still did not differ in respect to chromosome absolute and relative lengths, centromeric index, symmetry index and total karyotype haploid length. C-band and morphometric data did not show strong or significant differences which could separate these two species of peanut which belong to evolutive different sections.

A radiation hybrid map of bovine X Chromosome (BTAX)

We present a comprehensive radiation hybrid map of the bovine X chromosome (Chr) containing 20 new markers, including both microsatellites and expressed genes. This study was conducted with a 5000-rad whole genome RH cell panel consisting of 90 hybrid cell lines. Retention frequencies of individual markers range from 7.8% for XIST to 31.1% for TGLA325. Statistical analysis with RHMAPPER placed all the loci into five linkage groups under a LOD score criterion of 6.0. These groups could be oriented relative to each other because they included multiple microsatellite loci from the consensus linkage map of the X Chr. Markers included in both this RH map and the bovine cytogenetic map were in a consistent order. The comparative bovine-human map thus generated consists of five blocks of genes, the order of which is conserved, although in the opposite direction when presented as ideograms with p and q arms. Inversions of three blocks account for the difference in gene order across the entirety of the two X Chrs.