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Results for “Karyotype analysis”

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At least 127 records · Page 7Linked to original sources
PubMed1983

Karyotype analysis of B-lymphocytes transformed by Epstein-Barr virus in 21 patients with B cell chronic lymphocytic leukemia.

The karyotypes of 21 patients with chronic B cell leukemia were studied using lymphoblastoid cell lines obtained with the aid of the Epstein-Barr virus. Ten patients had a normal karyotype and eleven patients, an abnormal. There is no single characteristic anomaly, but certain types were more frequent, i.e., 14q+ as a result of a translocation 11;14, trisomy 12, and an isochromosome 17q. Abnormalities in these same three chromosomes have been found in other hematologic malignancies. It is postulated that loci with control cell proliferation are present on chromosomes 12, 14, and 17.

Aged↗
PubMed1989

Karyotype analysis of blighted ova in pregnancies achieved by in vitro fertilization.

Pregnancies achieved by IVF and resulting in blighted ovum were karyotyped. The rate of aneuploidy was found to be 38% (5/13). In vitro fertilization does not appear to be a risk factor for chromosome anomaly in live births or miscarriages, and the data reported so far may suggest that aneuploid rates are actually lower for pregnancies achieved by IVF.

Abortion, Spontaneous↗
PubMed2003

[Chromosome and karyotype analysis of Amorphophallus coaetaneus].

The research of Amorphophallus coaetaneus chromosome shows that the chromosome number of normal diploid is 2n = 26, karyotype formula is 2n = 26 = 20m + 6sm, which belongs to "2B" type. Compared with other species in the same genus, Amorphophallus coaetaneus is more primitive.

Amorphophallus↗
PubMed2001

Karyotype analysis of 161 unrelated schizophrenics: no increased rates of X chromosome mosaicism or inv(9), using ethnically matched and age-stratified controls.

Chromosomal aberrations have long been studied in an effort to identify susceptibility genes in schizophrenia. The two most frequently detected abnormalities are X chromosome mosaicism in female patients and pericentric inversions of chromosome 9 [inv(9)]. Chromosome X aneuploidies are known to be age dependent but differences due to ethnicity remain undetermined. In the case of inv(9), its prevalence in the general population varies with ethnicity. To evaluate the importance of these karyotypic changes in schizophrenia, cytogenetic analysis was performed on 161 unrelated schizophrenics of Japanese origin. We observed an increase in the incidence of X chromosome mosaicism in female schizophrenics with age. However, when compared with age matched female controls (92 individuals), no significant differences between patient and control samples were detected. Moreover, this study showed that there is no significant difference in the incidence of X chromosome loss between Japanese and Caucasian populations. The four cases with inv(9) (2.5%) detected in this study, did not differ significantly from the reported incidence of between 1.7 and 2.1% seen in the general Japanese population. We also observed a small number of additional karyotypic changes, none of which were recurrent. This is the first report to examine the comparative rates of X mosaicism in female schizophrenics and age matched controls.

Adolescent↗
PubMed1985

Banding karyotype analysis of murine leukemia L1210 cell lines with special regard to changes associated with a shift from in vivo to in vitro growth.

An attempt was made to establish permanent in vitro cultures of L1210 leukemia cells under close chromosome control. The investigations involved three independent adaptations. The karyotype was analyzed by the G-banding method. Chromosome analysis of the in vitro cell populations was carried out as soon as they could be analyzed, i.e. immediately after they obtained stable growth in the culture. By comparing the karyotype of the in vivo parental cell line with that of the derivative sublines in vitro, it was found that only some karyotypic variants present in the heterogeneous original population in vivo were able to produce cell lineages. In some cases rapid overgrowth of the cell populations by newly formed karyotypic variants was observed. In all independently obtained sublines changes in the karyotype involved the same chromosomes, thus suggesting that these changes were non-random for the process of cell line establishment in the system investigated. The observed changes in the number of copies of chromosomes 9 and 15 in the cells from the culture seem to indicate that the ratio of the genes localized in these chromosomes may be important for the growth in perpetuation of the cells.

Animals↗
PubMed1998

A karyotypic analysis of nilgai, Boselaphus tragocamelus (Artiodactyla: Bovidae).

A combination of chromosomal banding and fluorescence in situ hybridization (FISH) was used to characterize the karyotype of Boselaphus tragocamelus (nilgai) relative to the domestic cattle standard karyotype. G-, Q- and C-band karyotypes of nilgai are presented, and the chromosomal complement of nilgai is determined to be 2n=46 (female FN=60, male FN=59; NAA=56), consistent with previous reports for the species. Comparisons with cattle identified extensive monobrachial homologies with some noteworthy exceptions. Chromosome 25 is centrically fused to 24, and chromosome 16 is acrocentric. Both appear to have additional pericentromeric material not seen in the equivalent cattle acrocentrics. This pericentromeric chromatin may be the result of de novo additions or translocation of pericentromeric material from chromosome 6, which is shown to be centrically fused to 13 but is only about two-thirds the length of cattle 6. Comparisons with cattle demonstrated that nilgai chromosome 17 has undergone a paracentric inversion and that chromosome 20 has two blocks of interstitial constitutive heterochromatin. The identities of both chromosomes were confirmed by chromosomal FISH. Furthermore, chromosomal banding and FISH were used to determine that autosome 14 has been fused to the ancestral X and Y of nilgai to form compound neo-X and -Y chromosomes. Additional FISH analyses were conducted to confirm other proposed chromosome homologies and to identify nucleolar organizing regions within the nilgai complement.

Animals↗
PubMed1997

Cytogenetics of the genus Leporinus (Pisces, Anostomidae). 1. Karyotype analysis, heterochromatin distribution and sex chromosomes.

Cytogenetic analyses (Giemsa staining, C-banding, AgNO3 labelling of nucleolus organizer regions (NORs) and staining with base-specific fluorochromes) were performed on the South American fish species Leporinus friderici, L. obtusidens and L. elongatus. The overall karyotypic structure, position of NORs, as well as the amount, distribution and composition of constitutive heterochromatin were determined. Particular attention was given to the highly differentiated ZZ/ZW sex chromosome system of L. obtusidens and L. elongatus. Sharing the apparently ancient macroscopic karyotype of Anostomidae, all three species have 2n = 54 meta- or submetacentric chromosomes. NORs were found exclusively on chromosome pair 2, which may represent the ancestral NOR-bearing chromosome of the anostomid karyotype. Observed differences in the relative position of NORs along chromosome 2 and variations in the amount and distribution of constitutive heterochromatin throughout the karyotype were most probably caused by heterochromatin-mediated chromosome rearrangements. Detailed analysis of the morphologically similar heteromorphic ZZ/ZW sex chromosomes of L. obtusidens and L. elongatus allowed detection of differences in the DNA composition of the largely heterochromatic W chromosomes. However, since these and the W chromosomes of three other Leporinus species exhibit homologies with respect to their relative size, centromere position and amount and distribution of heterochromatin, it is concluded that they evolved from the same ancestral W chromosome.

Animals↗
PubMed1996

Isolated fetal choroid plexus cysts and karyotype analysis: is it necessary?

The purpose of this study was to evaluate the risk of fetal aneuploidy in the presence of isolated choroid plexus cysts and to evaluate the results obtained from our institution and those reported previously in the English literature. All patients with fetal choroid plexus cysts on prenatal ultrasonography were offered genetic counseling and amniocentesis for fetal karyotyping. Seven of 274 fetuses, 2.6% (95% confidence interval = 1.0 to 5.2%), with isolated choroid plexus cysts were aneuploid. Literature analysis located 23 other reports of 1537 fetuses with isolated choroid plexus cysts; 26 were karyotypically abnormal, 1.7% (95% confidence interval = 1.0 to 2.4%). When evaluating only those patients whose indication for amniocentesis was choroid plexus cysts (i.e., eliminating those patients with advanced maternal age or abnormal serum screening) the risk of having a fetus with trisomy 18 changed little, 1.9% (95% confidence interval = 0.4 to 5.5%). Our data, combined with those of the literature, suggest that the risk of finding an abnormal fetal karyotype in the presence of isolated choroid plexus cysts is at least 1% and may be as high as 2.4%. On the basis of these results, genetic counseling and prenatal diagnosis should be offered to these patients.

Aneuploidy↗
PubMed2003

Molecular genetics of Rhabdomys pumilio subspecies boundaries: mtDNA phylogeography and karyotypic analysis by fluorescence in situ hybridization.

The phylogeography of the African four-striped mouse, Rhabdomys pumilio, was investigated using complete sequences of the mtDNA cytochrome b gene (1140 bp) and a combination of fluorescence in situ hybridization (FISH) and conventional cytogenetic banding techniques (G- and C-banding). Two cytotypes (2n=46 and 2n=48) were identified by cytogenetic analysis. There is no evidence of diploid number variation within populations, difference in gross chromosome morphology or of subtle interchromosomal rearrangements at levels detected by ZOO-FISH. Analysis of the mtDNA cytochrome b resulted in two major lineages that correspond roughly to the xeric and mesic biotic zones of southern Africa. One mtDNA clade comprises specimens with 2n=48 and the other representatives of two cytotypes (2n=48 and 2n=46). The mean sequence divergence (12%, range 8.3-15.6%) separating the two mtDNA clades is comparable to among-species variation within murid genera suggesting their recognition as distinct species, the prior names for which would be R. dilectus and R. pumilio. Low sequence divergences and the diploid number dichotomy within the mesic lineage support the recognition of two subspecies corresponding to R. d. dilectus (2n=46) and R. d. chakae (2n=48). Our data do not support subspecific delimitation within the nominate, R. pumilio. Molecular dating places cladogenesis of the two putative species at less than five million years, a period characterised by extensive climatic oscillations which are thought to have resulted in habitat fragmentation throughout much of the species range.

Animals↗
PubMed2007

Biclonal low grade B-cell lymphoma confirmed by both flow cytometry and karyotypic analysis, in spite of a normal kappa/lambda Ig light chain ratio.

Composite low grade lymphoma with two subpopulations in a same site is uncommon. We herewith report the case of an 80-year-old woman who presented with isolated bilateral dacryoadenomegaly. Pathological examination of an incisional biopsy of her right lacrimal gland was consistent with a marginal zone lymphoma. Flow cytometry immunophenotyping showed two distinct clonal B-cell populations expressing sIg D lambda or sIg M kappa restriction in the lacrimal gland, blood, and bone marrow. Both B-cells populations were sorted from peripheral blood for molecular biology investigations and comparison with molecular data performed on tumor and bone marrow cells. IgH PCR performed on purified blood populations disclosed two monoclonal peaks: 98 bp-sized peak in the sIg M kappa and a 107 bp in the sIg D lambda clones, respectively. The lacrimal gland tumor expressed mainly sIg M kappa population, and showed a major 98 bp-sized peak coexisting with a very minor 107 bp peak. Cytogenetic studies showed a 46, XX,del (7) (q22q32) karyotype. Bone marrow examination at diagnosis revealed the same B-cell clones distribution than the one observed in blood with a dominant sIg D lambda population, a Genescan profile showing a major peak of 107 bp and a minor peak of 98 bp. Chromosomal analysis disclosed a 46,XX,del (10) (?p14) karyotype without detectable 7q deletion. To our knowledge, this observation represents the first reported case of biclonal low grade lymphoma hidden behind a normal classical kappa/lambda Ig light chain ratio in blood, but clearly demonstrated by the combination of three ancillary techniques (flow cytometry both analytical and cell sorting, molecular biology, and cytogenetics) and analysis of different tissues (i.e., in this case, lacrimal gland biopsy, blood, and bone marrow).

Aged, 80 and over↗
PubMed1976

Karyotypic analysis and evidence of tetraploidy in the North American paddlefish, Polyodon spathula.

A model chromosome number of 120 was obtained for the ancient fish. Polyodon spathula (Pisces: Chondrostei). The karyotype consists of 48 macrochromosomes and 72 microchromosomes. The microchromosomes are like those found in certain other primitive fishes as well as in reptiles and birds. The possiblity that Polyodon is a species of tetraploid origin is strongly suggested by the fact that the 120 chromosomes are easily arranged into 30 groups of four homologs each. Evolutionary comparisons are made with other primitive fish groups.

Animals↗
PubMed1986

Sex chromosome ratios determined by karyotypic analysis in albumin-isolated human sperm.

Human sperm that had been processed for Y-enrichment (male sex preselection) according to a currently favored albumin density gradient procedure were analyzed karyotypically for the proportion of X and Y chromosomes with the use of the human sperm/hamster egg system. This method allows direct inspection of haploid chromosome complements from human sperm. In 290 albumin-isolated sperm from six men, there were 57.2% X- and 42.8% Y-bearing chromosome complements; 201 unprocessed concurrent control sperm from five of the men had 50.2% X and 49.8% Y complements. The observed shift in sex chromosome ratio in processed samples, a decrease in Y-bearing sperm, was not statistically different from that of unprocessed controls (P = 0.13) but was significantly different when compared with the theoretic X/Y ratio of 50/50 (P = 0.016). A total of 3187 historical control karyotypes were also reviewed, with an overall sex chromosome ratio (X/Y) of 49.8/50.2. The control groups did not differ significantly from the expected 50/50. The Y-enrichment of processed sperm was not confirmed.

Animals↗
PubMed1995

Meiotic instability of Pythium sylvaticum as demonstrated by inheritance of nuclear markers and karyotype analysis.

Progeny from a sexual outcross between opposite mating types of Pythium sylvaticum were analyzed for inheritance of RFLP and random amplified polymorphic DNA (RAPD) markers. Although most were inherited in expected Mendelian frequencies, several were not. Pulsed field gel electrophoresis was employed to examine these unexpected patterns of marker inheritance at a karyotypic level. Parental oogonial and antheridial isolates had different electrophoretic karyotypes and minimum number of chromosome-sized DNAs (13 and 12, respectively), however, summation of the sizes of all chromosomal bands for each isolate was similar at approximately 37 Mb. Progeny karyotypes differed significantly from each other and the parental isolates, ranging in estimated minimum number of chromosome-sized DNAs from 9 to 13 and the summation of band sizes within each isolate from 28.1 to 39.0 Mb. For the eight isolates most extensively analyzed, 80% of the progeny chromosome-sized DNAs were nonparental in size or hybridization grouping of cDNA clones and isolated RAPD markers. Based on the results of Southern analysis it appears that length mutations and perhaps aneuploidy and translocations have contributed to generation of karyotypic polymorphisms. Nineteen field isolates of P. sylvaticum collected from the same location also exhibited significantly different karyotypes, suggesting that the meiotic instability observed in the laboratory also is occurring in field populations.

Base Sequence↗