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Results for “Karyotyping”

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At least 19 recordsLinked to original sources

PubMed2025

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.

BACKGROUND: This study aimed to evaluate the efficacy of copy number variation sequencing (CNV-Seq) in detecting chromosomal abnormalities in prenatal diagnosis, comparing its performance with traditional karyotype analysis. METHODS: A retrospective analysis was conducted on 1001 prenatal samples collected between April 2021 and December 2023. Samples were analyzed using both CNV-Seq and karyotype analysis. The detection rates of chromosomal abnormalities were compared between the two methods across various prenatal diagnostic indications. Clinical follow-up was performed to assess pregnancy outcomes. RESULTS: CNV-Seq detected chromosomal abnormalities in 89 of 1,001 cases (8.9%), compared to 50 cases (5.0%) identified by traditional karyotyping. CNV-Seq not only detected all abnormalities identified by karyotyping, including common aneuploidies such as trisomy 21 and sex chromosome abnormalities, but also uncovered 53 additional pathogenic submicroscopic CNVs associated with 33 known syndromes. The detection rates of CNV-Seq were significantly higher in high-risk groups, such as those identified by non-invasive prenatal testing (HR-NIPT) and maternal serum screening (HR-MSS), demonstrating superior sensitivity and accuracy in prenatal diagnostics. CONCLUSION: CNV-Seq demonstrated superior sensitivity in detecting chromosomal abnormalities, particularly submicroscopic alterations, compared to traditional karyotyping. The study highlights the potential of CNV-Seq as a valuable tool in prenatal diagnostics, offering improved detection of genetic abnormalities and guiding clinical decision-making. However, a combined approach using both CNV-Seq and karyotype analysis is recommended for comprehensive prenatal genetic screening.

Humans↗

PubMed1978

Comparative analysis of karyotypes in European shrew species. I. The sibling species Sorex araneus and S. gemellus: Q-bands, G-bands, and position of NORs.

The karyotypes of two closely related species of the genus Sorex (Mammalia, Insectivora) were compared with each other by G- and Q-banding techniques and by Ag-AS staining (GOODPASTURE and BLOOM, 1975). By comparing the G-banded karyotypes, it could be ascertained that the basic differences in karyotype between the two species lie in three pericentric inversions, three paracentric inversions, and one reciprocal translocation. This is in near agreement with FORD and HAMERTON (1970), who assumed that both species differ by three pericentric inversions and one tandem translocation. Furthermore, the karyotype of S. araneus (race C) presented by HALKKA et al. (1974) has been compared with the S. araneus of the present report. Considering the species with respect to karyotypic evolution, it is supposed that S. araneus and S. gemellus derive from a common ancestor.

Animals↗

PubMed2025

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.

BACKGROUND: Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM) was conducted in 32,967 pregnant women from January 2015 to December 2022. METHODS: A total of 148 fetuses diagnosed with chromosomal mosaicism by karyotyping with copy number variant sequencing (CNV-seq)/ chromosomal microarray analysis (CMA) and quantitative fluorescent polymerase chain reaction (QF-PCR) were selected, and the results from three the methods were compared and further analyzed. The χ2 test for multiple group rates was for the 5 clinical prenatal diagnostic indication groups was used to do multiple comparison tests for statistical analysis. Inconsistent results between methods were identified and further analyzed. RESULTS: A total of 148 CM cases was detected (0.45%, 148/32967), of which karyotyping was detected in combination with CMA in 73 cases (73/85), with CNV-seq in 5 cases (5/11), and with QF-PCR in 35 cases (35/52) and the mosaic conformity rates of the three methods compared with karyotyping were 85.9% (CMA), 67.3% (QF-PCR), and 45.5% (CNV-seq), respectively. There were 49 cases of autosomal mosaicism (49/148, 33.1%) and 99 cases of sex CM (99/148, 66.9%). There were 9 cases of small supernumerary marker chromosome (sSMC)with CMA detection clarified the origin of chromosome fragments. The non-invasive prenatal testing (NIPT) group and the ultrasound abnormality group had the highest detection rates, accounting for 35.1% and 22.3%. CONCLUSIONS: In chromosomal mosaicism, there are inconsistent results between different detection methods. Therefore, karyotyping combined with CMA/CNV-seq and FISH methods significantly improves the detection rate of chromosomal mosaicism and also confirms experimental data in the literature, which is of great value for prenatal diagnosis.

Humans↗

PubMed1979

Susceptibility of owl monkeys to Plasmodium falciparum infection in relation to location of origin, phenotype, and karyotype.

The relationship among geographic origin, phenotype, karyotype, and susceptibility of owl monkeys to 2 strains of Plasmodium falciparum was investigated. Owl monkeys from Columbia and Panama were both susceptible to fatal infections with the Asian FVO (Vietnam-Oak Knoll) strain of P. falciparum. However, when inoculated with the African FUP (Uganda-Palo Alto) strain, most Colombian owl monkeys developed fatal or potentially fatal (bled out with parasitemias of over 25%) infections, but Panamanian monkeys generally survived. Colombian and Panamanian monkeys that spontaneously recovered from malaria infection were phenotypically indistinguishable from those which died. Karyotype analysis revealed that animals considered in this study were either Karyotype II (54 chromosomes) or II (53 chromosomes). Karyotype differences between individual monkeys did not correlate with increased susceptibility or resistance to malaria. Thus, the country of origin of owl monkeys appears to play a more important role in host susceptibility to malaria infection than karyotype.

Animals↗

PubMed1979

Visual classification of banded human chromosomes. III. Classification and karyotyping of density profiles described by band transition sequences.

Band transition profiles (BT-profiles) representing extracted band pattern features of 898 density profiles of banded chromosomes were classified and karyotyped by a cytogeneticist in order to investigate how much information was lost by substituting for the original density profiles their extracted features. The results were evaluated and compared with visual classification and karyotyping of the same 898 density profiles from which the BT-profiles were derived. Six per cent errors were made in classification of isolated BT-profiles and 0.7% errors were made in karyotyping BT-profiles. These error rates were comparable to the corresponding error rates in classifying and karyotyping density profiles, which were 5% and 0.5%, respectively. It is concluded that most of the important band pattern information of the density profiles is retained in the BT-profiles, and it is supposed that the condensed BT-sequences (from which the BT-profiles are derived) constitute a sufficient and appropriate basis for automated karyotyping.

Chromosome Banding↗

PubMed1978

Incidence of 47,XYY karyotype in a consecutive series of newborn males in Tokyo.

A series of 3545 newborn males, born consecutively at a maternity hospital in the western suburbs of Tokyo and with no detectable physical abnormalities, were studied for fluorescent Y-chromatin. Buccal cell smears from each infant were screened. Cases with ambiguous results were subjected to a second test by blood smears, which were found to be more reliable. After the second test, chromosomal analysis was carried out in five infants: three had a 47,XYY karyotype; one, the karyotype 46,XY-D,t(D:Y) (Iijima et al., in preparation); and one, a normal male karyotype. The XYY karyotype occurred in 0.11% of newborn males in this series.

Cheek↗

PubMed1979

Comparison of the karyotypes of four Cercopithecoidae: Papio papio, P. anubis, Macaca mulatta, and M. fascicularis.

The karyotypes of two species of baboons, Papio papio and P. anubis, and of two species of Macaca, M. mulatta and M. fascicularis, are compared after the use of numerous banding techniques. No difference was detected between the karyotype of the two Papio species. However, a minor change in the T-staining of a short segment, probably heterochromatic, could be detected between the Papio species and M. mulatta. A paracentric inversion exists between these three and M. fascicularis. These karyotypes are briefly compared with those of the Pongidae and man. The value of the karyotypic criteria and of the methods used for taxonomy is discussed.

Animals↗

PubMed1979

Chromosomes of Lemuriformes. V. A comparison of the karyotypes of Cheirogaleus medius and Lemur fulvus fulvus.

In this report we compare the karyotype of Lemus fulvus fulvus (2n=60) with that of Cheirogaleus medius (2n=66), a species thought to retain the ancestral lemur karyotype. A culture technique was designed specifically for lemur lymphocytes to facilitate description of the complete karyotypes using G--banding, C-banding, and Ag-AS staining for nucleolus organizer regions (NOR's). Different G-banding patterns in three chromosome pairs and different NOR-bearing chromosomes between the two species, as well as additional chromosomes and interstitial C-bands in C. medius, suggest that the chromosome complement of C. medius may not perfectly reflect the ancestral morphology. However, allowing for a Robertsonian centric fusion and a pericentric inversion, the G-banding patterns of 27 of the 32 autosomal pairs of C. medius are indistinguishable from those of L. fulvus fulvus. This constitutes strong justification for assigning these chromosomes to the ancestral lemur karyotype.

Animals↗

PubMed1978

Karyotype abnormalities in two primate species, Pygathrix nemaeus and Lemur coronatus.

The karyotypes of 7 douc langurs (Pygathrix nemaeus) and 3 crowned lemurs (Lemur coronatus) were examined. Abnormalities in 23.5% of the karyotypes of 1 male douc langur were associated with a history of fathering stillborns and abortuses (38%). Karyotype analysis of an apparently normal female lemur revealed three differing karyotypes, one normal and two abnormal.

Abortion, Spontaneous↗

PubMed1977

Computer-assisted karyotyping with human interaction.

A system for machine assisted karyotyping and chromosome analysis has been developed. The system uses a drum- or TV-scanner as input device, runs provisionally in 32 K memory, and also allows human interaction on several stages. The accuracy with which banded chromosomes are karyotyped depends strongly on the type of classifier and varies from 40 up to 80%. The accuracy of the human assisted classifier (98%) comes close to that of a skilled technician (99.5%) using manual chromosomal analysis. Due to technical and memory limitations, the time necessary for the karyotyping of one cell is too long and depends on the interaction time; however karyotyping within 5 min, including human interaction, will be possible in the near future.

Chromosomes↗

PubMed1979

Bone marrow karyotypes of children with nonlymphocytic leukemia.

Bone marrow (BM) karyotypes from 16 consecutive children presenting with nonlymphocytic leukemia were established with the use of banding techniques, before therapy. The two patients with chronic myeloid leukemia (CML) showed the Philadelphia (Ph1) translocation (9q+;22q-). Five of the 14 patients with an acute nonlymphocytic leukemia (ANLL) presented no acquired cytogenetic abnormalities, but one of these five showed a high level of hypodiploidy. One patient with AML evidenced a variant of the Ph1 chromosome originated as a translocation (12p+;22q-). Nonrandom abnormalities (-7; 7q-; +8; t(8;21); -21) were found in six patients, isolated or in association with otheraberrations. Among the random abnormalities, apparently balanced translocations and chromosomal deletions were observed. In ANLL, no correlation could be found between morphologic diagnosis and cytogenetic findings. On the other hand, the presence of BM cells with a normal karyotype at diagnosis was associated with an improved remission rate and survival time. Followup studies were performed in four ANLL patients with an abnormal cell clone at diagnosis. Three of them achieved hematologic remission; their BM karyotype was found to be normal at that stage. In the 4th patient, generalization of the abnormal karyotype in BM cells was seen in the terminal phase of the disease.

Bone Marrow↗

PubMed1979

True hermaphroditism with peripheral blood and gonadal karyotyping.

Eight documented cases of true hermaphroditism have been seen in the reproductive endocrine unit at the Medical College of Georgia since 1969. There was histologic evidence of both ovarian and testicular tissue in all cases. Seven patients had peripheral blood karyotypes: 6 had normal 46,XX peripheral blood karyotypes, and 1 patient had a normal 46,XY blood karyotype. Four of the 7 patients studied had chromosomal analysis of 1 or both gonads. Five gonads were karyotyped as 46,XX and 1 revealed a mosaic gonadal pattern of 46,XX/46,XY. The clinical features, anatomic findings, and cytogenetic studies of these patients are reviewed. Discordant findings in peripheral blood and gonadal chromosomes are discussed.

Adolescent↗

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↗