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PubMed1979

[Change in the karyotypic structure of mouse and rat rhabdomyosarcomas on their transplantation into the anterior chamber of the eye].

A study has been made of 7 transplatable lines of mice rhabdomyosarcomas and one line of rat rhabdomyosarcoma during their transplantation into the eye anterior chamber subcutaneous tissue. In all, 10 subcutaneous transplants and 15 transplants into the eye anterior chamber (EAC) were examined. Etanol fixed print smears were subjected to the Feulgen reaction to measure the DNA content using a cytophotometer MCPhU-1; 100 cells being measured in each transplant. In the majority of the EAC transplants, a statistically significant decrease of the karyotypic variability was found in additionto the augmentation to the diploid cell ratio as compared to subcutaneously proliferating populations of the same tumour lines. In some cases EAC transplants displayed exclusively diploid (periploid) populations of tumour myoblasts. Shifts in the karyotypic structure of populations towards diploidy, revealed during the cultivation of transplantable rhabdomyosarcomas, may be regarded as a phenomenon of the "karyotypical normalization" of tumour cells. The disappearance or sharp decrease of tetraploid or hypertetraploid classes of cells in EAC transplants may be due to the increase of their selective value in condition of immunological privilege of diploid, karyotypically normal cells, and of reduction of the genome mutation frequency in a diploid fraction of tumor myoblast populations.

Animals↗
PubMed2026

Satellite DNA evolution in Tytonidae (Aves: Strigiformes): dynamic repeat landscapes despite conserved karyotypes.

The elevated chromosome numbers observed in Tytonidae relative to the putative ancestral avian karyotype suggest that lineage-specific chromosomal fissions may have played an important role in the evolutionary history of this family. Here, we provide the first cytogenetic characterization of the American barn owl (Tyto furcata) and performs a comparative repeatome analysis across members of the Tytonidae, including other two species, the Western barn owl (Tyto alba), and the Oriental bay owl (Phodilus badius). The karyotype of T. furcata showed a 2n = 92, closely resembling that previously described for T. alba, indicating a high degree of chromosomal conservation within Tytonidae. Although T. furcata and T. alba exhibit similar karyotypic organization, comparative repeatomic analyses revealed differences in their composition, including variation in satellite DNA (satDNA) repertoires and abundance. Eight satDNA families were identified in T. furcata, nine in T. alba, and 28 in P. badius, highlighting the dynamic evolution of repetitive sequences. Several satDNA families were shared between T. furcata and T. alba, whereas some appeared species-specific, supporting the library hypothesis of satDNA evolution. In P. badius, multiple satDNAs exhibited similarity to transposable elements, suggesting that mobile elements contributed to their diversification. Cytogenetic analyses demonstrated centromeric heterochromatin distribution in T. furcata, as well as a large heterochromatic W chromosome enriched in DNA repeats. The localization of satDNAs in centromeric regions and the apparent accumulation of repeats on the W chromosome reinforce the role of repetitive sequences in chromosome organization and sex chromosome differentiation. Together, these findings reveal repeatome diversification despite conserved macrochromosomal structure and provide new insights into genome evolution and chromosomal dynamics in birds.

Animals↗
PubMed1978

Chromosomes and causation of human cancer and leukemia. XXIX. Further studies on karyotypic progression in CML.

Fifty-seven Ph1-positive cases of chronic myelocytic leukemia (CML) were analyzed with chromosomal banding techniques and their karyotypic progression followed. These cases included 1 without evidence of a Ph1-translocation and 1 new patient with a complex Ph1-translocation involving chromosomes No. 9, No. 17 and No. 22. Of the 57 patients, 28 had the Ph1 as the only karyotypic anomaly, whereas the remaining 29 cases developed and/or were associated with chromosomal changes usually of a hyperdiploid nature, particularly in the blastic phase, in addition to the Ph1. Even though the additional karyotypic changes frequently included chromosomes No. 8, No. 17, No. 19 and No. 21, a large number of others was also involved, although less often. The series included 3 cases with different types of translocations unrelated to the Ph1. The cytogenetic observations have been correlated with some of the clinical parameters. The survival of the patients was evaluated in relation to the karyotypic findings, indicating that the chromosomal changes may not play as important a role in the prognostic and progressive aspects of Ph1-positive CML as that of other as yet undetermined factors.

Adult↗
PubMed1979

Karyotypic abnormalities and clinical aspects of patients with multiple myeloma and related paraproteinemic disorders.

Karyotypic abnormalities were detected in the malignant cells of 6 of 18 patients with multiple myeloma (MM). Six patients with benign monoclonal gammopathy, one with amyloidosis of immunoglobulin origin, and two with Waldenström's macroglobulinemia had normal karyotypes. All six MM patients with aneuploidy were in a group of 10 patients in an accelerated or relapse phase of their disease and four had high serum paraprotein levels (7.92, 6.24, 6.80, and 4.24 g/dl, respectively) when their abnormal karyotypes were detected. Five of the 6 MM patients with aneuploidy had received prior chemotherapy. Aneuploidy was not observed in 8 stable MM patients. Abnormalities of chromosome 14 were present in all 6 patients, with a 14q+ marker in 5 and loss of No. 14 in 1. A translocation between Nos. 11 and 14 was found in aneuploid cells of 2 patients who had plasma cell leukemia (PCL). However, the break point in the long arm of No. 11 differed in the 2 patients. A gain of Nos. 5, 9, and 11 was seen in 3 patients, a gain of No 1 in 2, and rearrangements of No. 1 in 5 MM patients, including all 4 who had a 14q+ marker chromosome initially. A deletion of chromosome 6 at band q25 was detected in 2 MM patients and a pericentric inversion of No. 6 (6p21 to 6q13) was seen in the patient with PCL. Three of 4 MM patients had a nonrandom loss of one chromosome 8. Two other MM patients, who were treated with melphalan and prednisone, developed acute nonlymphocytic leukemia (ANLL) 2+ and 4+ years after the diagnosis of MM. Marrow cells of one patient showed a 5q- chromosome and a constitutional translocation involving Nos. 13 and 14 during the preleukemic stage; during the leukemic phase, the karyotype evolved to 50 chromosomes including extra chromosomes 1, 6, 8, 10, and 21 and a missing 7, in addition to the originally detected 5q- and the 13/14 translocation. The peripheral blood from the other patient was hypodiploid, with a missing chromosome 7 and a translocation between 3q and 9p. These patterns of chromosome change resemble those of ANLL rather than MM and are similar to the changes seen in ANLL after treated malignant lymphoma.

Adult↗
PubMed1978

Turner syndrome with rare karyotypes.

Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp--; two cases with 45,X/46,X,r(X); one case with 45,X/47,XYY; and one case with 46,XY.

Adolescent↗
PubMedDate not supplied

[Simultaneous study of karyotype and bone marrow histology in chronic myeloid leukemia with Ph1 chromsome. (author's transl)].

This study was devoted to the simultaneous examination of the karyotype and the bone marrow histology in 33 patients suffering from chronic myeloid leukemia with the Ph1 chromosome. Some patients were evaluated in the beginning of the disease, others after evolution and treatment and some at both times. Supplementary abnormalities of the karyotype occurred in some patients before any treatment, but in most after evolution and treatment. The abnormalities encountered consisted in hypodiploidies, modifications of chromosome structure and hyperdiploidies. The additional abnormalities of the karyotype were in the majority of the patients accompanied by a bone marrow histology characterized by more pronounced blastic infiltration and precollagen fibrosis and evidence of bone lesions. The picture realized by the karyotype and the bone marrow histology allows a better evaluation of the evolution and the prognosis is individual cases, especially of the likely hood of the acute blastic transformation.

Adolescent↗
PubMed2025

Genomic insights into karyotype evolution and adaptive mechanisms in Polygonaceae species.

Polygonaceae, with ecological versatility and global distribution, is an ideal system for investigating plant adaptation. However, the genomic mechanisms underlying its karyotype evolution and environmental resilience remain unclear. We herein present chromosome-level genomes of 11 species from 10 Polygonaceae genera. Our analyses reveal that Gypsy retrotransposons are key drivers of genome size variations in Polygonaceae. We reconstructed a Polygonaceae ancestral karyotype comprising 28 proto-chromosomes and elucidated evolutionary trajectories via extensive chromosomal rearrangements. Furthermore, we constructed a cross-genus super pan-genome for Polygonaceae, identifying 80,055 gene families, of which 9,845 (12.30%) are core gene families. Private genes are found to contribute significantly to interspecific differences in adaptability. Notably, gene copy number variations are identified as a critical factor influencing adaptations to diverse niches involving species-specific increases in metabolic pathways. This study provides a genomic framework for Polygonaceae karyotype plasticity and adaptive innovation, offering insights into plant evolution under environmental challenges.

Karyotype↗
PubMed1976

Chromosomes and causation of human cancer and leukemia. XIII. An evaluation of karyotypic findings in erythroleukemia.

This study was an attempt at defining the cytogenetic features of erythroleukemia (EL), particularly as related to the group of AML patients with MAKA (major karyotypic abnormalities), which generally were caused by three or more cellular events of translocation or nondisjunction. Eight of the 17 patients with MAKA had a diagnosis of EL or possible EL. In most cases, MAKA was featured by hypodiploidy, karyotypic instability, and polyploidy in the leukemic cells. The most common abnormalities were loss of B or G group chromosomes and gain of a no. 16 or one or more marker chromosomes. Each of the markers of 2q+, Dq+, mar(A2, st), mar(C12, M), r(?F) and minute metacentric and acentric markers was observed in two or more patients. The extent of polyploidy seemed to be correlated with the proportion of erythroid precursor cells in the marrow and with the karyotypic instability. Since the patients exhibited the same chromosomal features, whether or not they had a diagnosis of EL or possible EL, and since patients without such a diagnosis also had cytologic suggestions of EL, a close relation of MAKA to EL is assumed. It is believed that patients with MAKA constitute one of the three chromosomally classifiable groups of EL.

Bone Marrow↗
PubMed1978

Karyotypic evolution in an originally XY cell line of Drosophila melanogaster: a case of heterochromatin increase in vitro.

The cell line Ca of Drosophila melanogaster, characterized initially by a nearly diploid and normal male karyotype (XY), was used to study chromosomal variation over a period of 5 years of cultivation in vitro. Some general aspects of cell population dynamics which are in accordance with previous findings are pointed out. Various phenomena regarding chromosomal changes leading to karyotype polymorphism are outlined, with a particular emphasis being given to the sex chromosomes. Accordingly, with the aid of fluorescence analysis, some features of the Y and the X chromosomes providing evidence of an enlargement of the heterochromatin (due to addition and to saltatory replication) are described. Moreover, a case of variation in cell morphology accompanied by karyotypic changes was observed, as well as the emergence of a new cell subline of XX type derived from the original of XY type.

Cell Line↗
PubMed1979

Mauritius type black rats with peculiar karyotypes derived from Robertsonian fission of small metacentrics.

All seventeen black rats collected from Mauritius Island were characterized by having many extra small acrocentric autosomes. Their basic karyotype was of Oceanian type, because of the presence of the large metacentric M1 and M2 pairs, but chromosome numbers in 13 specimens among them were 42, those of 3 specimens 43, and those of the remaining one specimen 44. Although the Oceanian type rat had 2 small acrocentric autosomes (pair no. 13), 16 Mauritius rats had 10 small acrocentrics, and the remaining one had 8 small acrocentrics. Comparative karyotype analysis between Oceanian and Mauritius type rats showed that the extra small acrocentrics found in Mauritius rats were due to Robertsonian fission of small metacentric pairs no. 14 and 18 of the original Oceanian type rat. Only one rat with 8 small acrocentrics showed the heteromorphic pair no. 18 consisting of one metacentric and two acrocentrics. The large metacentric M1 chromosome in 13 of 17 rats examined showed homologous pair, but two of them were heteromorphic by involving one metacentric M1 and two acrocentrics. In the remaining two rats M1 chromosome was not observed, but acrocentric pairs no. 4 and 7 were included. These acrocentrics were also suggested to be originated from Robertsonian fission of the large metacentric M1 chromosome. Robertsonian fission seemed to be one of the important mechanism found in karyotype evolution.

Animals↗
PubMed1977

Gonadal karyotyping in women with and without ovarian activity.

Results of gonadal karyotyping on 26 patients with cyclic or acyclic ovarian activity and hypogonadotropic or hypergonadotropic hypogonadism are presented. Gonadal culture growth, with the exception of tissue from polycystic ovaries, was usually successful. With one exception, leukocytic and gonadal karyotypes were concordant. Normal ovarian function did not appear to be limited to ovaries of the 46,XX karyotype.

Adolescent↗
PubMed1976

Karyotype, marker formation, and oncogenicity in mouse plasmacytomas.

Two common chromosome markers in the 2 plasmacytomas previously examined by Giemsa banding were consistently present in the mouse plasmacytoma X-5563, a transplantable hypertetraploid tumor of spontaneous origin in C3H mice. The 2 markers were found in both induced and spontaneous tumors and in either BALB/c or C3H mice. The derived cell line had 17 fewer chromosomes than the X-5563 tumor and was oncogenic, and its modal karyotype was identical to that of the tumor transmitted by the inoculation of the cell line. The homogeneity of a slight karyotypic modification in a second tumor suggested a possible clonal origin of that tumor. The high frequency of centric fusions between homologues and the structure of certain markers suggests that homologue association may precede marker formation. We proposed a second mechanism of marker formation, selective regional elongation, to account for the larger number of markers with proximal or distal elongations without evidence of translocation and for the observed alterations in length and banding pattern of markers after growth in vitro. Comparison of MOPC-21, MOPC-315, and X-5563 tumors showed preferential involvement of certain chromosomes in marker formation, an inferred association of the 2 common markers with an early stage in the origin of the 3 plasmacytomas, and consistent loss of an X chromosome. Loss of oncogenicity in cell lines was associated with a number of karyotypic changes, but did not require the loss of the characteristic markers or additional copies of a specific normal chromosome.

Animals↗
PubMed1977

Heterogeneity of karyotype and growth potential in simian virus 40-transformed Chinese hamster cell clones.

Five clones of Chinese hamster cells transformed with simian virus 40 (SV40) were isolated from methylcellulose and characterized as to Giemsa-banded karyotype, DNA content, saturation density, agglutination with concanavalin A, and tumorigenicity. Chromosome analysis and DNA content studies at early passage revealed that the genetic complement for all clones was predominantly near tetraploid. All cultures examined contained a proportion of hypertetraploid cells. Nonrandom chromosome changes included at least one broken No 1 chromosone in 80% or more of the cells in each clone, and fewer sex chromosomes than anticipated from the ploidy of the cells. Several abnormal marker chromosomes tended to recur. These changes were more pronounced in the cells cultured from tumors formed by three of the clones. A karyotypically stable stem line was not noted for any of the clones or tumors. The functional significance of the karyotypic heterogeneity was assessed by means of cloning efficiencies both on plastic and in methylcellulose.

Animals↗
PubMed1978

Myeloid karyotype and the malignant phase of chronic granulocytic leukaemia.

During the course of a 30 month study period, 26 patients with typical chronic granulocytic leukaemia (CGL) developed karyotype abnormalities in addition to the Philadelphia (Ph1) chromosome. All cases had received at least 14 months continuous low dose busulphan, and the chromosome changes were found before clinical transformation in six patients and at the time this occurred in 20. Survival following the discovery of these additional abnormalities was short, with a median of 11 weeks for the whole group. Trisomy 8 was the commonest additional chromosome abnormality, but no one karyotype change was clearly associated with shorter survival than another. 23 of the 26 have died as a direct result of their disease, forming part of a total of 40 deaths from typical CGL encountered during the study period where karyotype analyses were performed during the terminal stages of disease. Of these 40, only two (5%) patients showed no chromosome abnormalities extra to the Ph1 prior to death. (The 17 non-study patients who died were similar in all respects to the 23 from the study group, but had no prior chromosome studies performed during the chronic phase of the disease.) It is suggested that an expanding aneuploid or pseudodiploid clone arising from the leukaemic cells during the benign phase of CGL can be used to mark the sometimes ill-defined onset of the malignant phase in all but a small proportion of cases.

Adolescent↗
PubMed1975

Early childhood development of four boys with 47, XXY karyotype.

In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and psychological evaluations. Parents were informed in general terms of the child's genetic defect, and were offered continuing support and encouragement throughout the study. Close cooperation with the families was maintained. So far, the development of all these children has fallen clearly within the normal range and a reasonable healthy dpattern has been secured. Minor deviations in motor, speech and emotional development suggest a common underlying pattern, but four cases are too few on which to establish a relationship between karyotype and phenotype. The data suggest that the symptomatology reported in selected children with a 47,XXY karyotype may be strongly dependent on factors other than the chromosomal constitution, and that an appropriate familial and environmental situation may minimize elevated risks due to the marked genetic defect.

Adolescent↗
PubMed1978

Banding patterns of the chromosomes of two new karyotypes of the owl monkey, Aotus, captured in Panama.

Two new chromosome complements of Aotus trivirgatus griseimembra are described making a total of five different karyotypes observed in this subspecies inhabiting Panama and the northwestern part of Colombia, South America. Detailed comparisons of the G-banded chromosomes of these five karyotypes suggest that the polymorphism of chromosome numbers 56 and 55 in Panamanian Aotus and 54, 53, and 52 in Colombian Aotus stems primarily from a Robertsonian translocation mechanism involving pairs B13 and B14 (or A1). A second Robertsonian translocation mechanism involving pairs B28 and B29 (or A2) constitutes the karyotypic differences between the two chromosomal races.

Animals↗
PubMed1978

Two transsexuals with 47-XYY karyotype.

Previous reports of sexual orientation and gender identity in subjects with XYY karyotype are reviewed. Two patients seeking a change of sex operation and found to have an XYY karyotype are described. It is argued that an XYY karyotype may predispose to a disturbed gender identity and possibly to the development of the transsexual syndrome.

Adult↗
PubMed1977

Karyotype 45, XX, --11,2q+ of bone marrow cells in a case of di Guglielmo syndrome.

The case of 50-years-old woman with the chronic type of erythraemia (di Guglielmo syndrome) and the karyotype 45, XX, --11,2q+ of bone marrow cells is described. By means of G-banding the karyotype 45,XX, -2, -11, + der (2), t(2;11) (2pter leads to 2qter:: 11q12 leads to 11qter) was established. The karyotype of bone marrow was thus partically monosomic for chromosome No. 11, for its segment 11 (pter leads to q11).

Chromosome Aberrations↗