Log in

Relevant bibliographies by topics / Normal Karyotype / Journal articles

To see the other types of publications on this topic, follow the link: Normal Karyotype.

Journal articles on the topic 'Normal Karyotype'

Author: Grafiati

Published: 9 March 2023

Last updated: 19 July 2025

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Normal Karyotype.'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

Steidl, Christian, Rainer Schabla, Ulrich Germing, et al. "Sequential Cytogenetic Analyses of 577 Patients with Myelodysplastic Syndromes: Correlations between Initial Karyotype, Cytogenetic Dynamics, and Clinical Course." Blood 106, no. 11 (2005): 2531. http://dx.doi.org/10.1182/blood.v106.11.2531.2531.

Full text

Abstract:

Abstract Myelodysplastic syndromes are dynamic diseases presenting with different clinical courses ranging from almost stable courses to rapid progression to acute myeloid leukemias. Karyotype is one of the most important prognostic factors and defines subgroups of favorable, intermediate and adverse prognosis. So far, comparably low attention has been payed on karyotypic changes occuring in sequential cytogentic examinations during the course of the disease. We retrospectively examined karyotypes of 577 patients with MDS or AML with previous history of MDS and at least two successfully perfor

APA, Harvard, Vancouver, ISO, and other styles

2

Pinar, Halit, Marshall Carpenter, Benjamin J. Martin, and Umadevi Tantravahi. "Utility of Fetal Karyotype in the Evaluation of Phenotypically Abnormal Stillbirths." Pediatric and Developmental Pathology 12, no. 3 (2009): 217–21. http://dx.doi.org/10.2350/07-07-0307.1.

Full text

Abstract:

The objectives of this study are to test the hypothesis that stillbirths without aneuploidy-associated phenotypes have a low incidence of karyotypic abnormalities, similar among those with and without other anatomic defects. We employed a uniform postmortem protocol to examine fetuses and placentas in 962 consecutive stillbirths measuring ≥20 weeks in clinically determined gestational age submitted to the Women and Infants Hospital Division of Perinatal Pathology from 1990 through 2005. Classification of anatomic (macroscopic) abnormalities was based on a priori criteria. Anatomic fetal abnorm

APA, Harvard, Vancouver, ISO, and other styles

3

Göhring, Gudrun, Kathrin Thomay, Caroline Fedder, Winfried Hofmann, Hans Heinrich Kreipe, and Brigitte Schlegelberger. "Telomere Shortening, TP53 Mutations and Deletions in Chronic Lymphocytic Leukemia Result in Increased Chromosomal Instability and Breakpoint Clustering in Heterochromatic Regions." Blood 128, no. 22 (2016): 3220. http://dx.doi.org/10.1182/blood.v128.22.3220.3220.

Full text

Abstract:

Abstract Complex karyotypes are associated with a poor prognosis in chronic lymphocytic leukemia (CLL). Using mFISH, iFISHand T/C FISH we thoroughly characterized 59 CLL patients regarding parameters known to be involved in chromosomal instability: status of the genes ATM and TP53 and telomere length (10 patients with a normal karyotype, 10 patients with an isolated deletion 11q, 19 patients with a complex karyotype without a deletion 11q and 20 patients with a complex karyotype including a deletion 11q). Among the patients with a complex karyotype, 29 of 39 (74%) showed a karyotypic evolution

APA, Harvard, Vancouver, ISO, and other styles

4

Feng, Qiutian, and Jian Huang. "Cytogenetic Abnormalities Lead to Poor Prognosis in Patients with Myelofibrosis, Especially Postessential Thrombocythemia Myelofibrosis and Postpolycythemia Vera Myelofibrosis: A Multicenter Retrospective Study." Blood 144, Supplement 1 (2024): 6638. https://doi.org/10.1182/blood-2024-205559.

Full text

Abstract:

For patients with myelofibrosis (MF), personalized treatment planning based on disease risk stratification and symptom assessment is typically carried out. Some prognostic scoring systems applicable to overt Primary myelofibrosis(overt PMF) patients may not accurately categorize the prognosis of postessential thrombocythemia myelofibrosis (post-ET MF) and postpolycythemia vera myelofibrosis (post-PV MF) patients. Currently, the prognostic model for myelofibrosis secondary to postpolycythemia vera(PV) and thrombocythemia(ET) (MYSEC-PM) involves only clinical features and driver gene mutations,

APA, Harvard, Vancouver, ISO, and other styles

5

Zeng, Xiangzong, Min Dai, Yu Zhang, Lingling Zhou, Ya Zhou, and Qifa Liu. "Somatic Mutations Predict Poor Prognosis in Myelodysplastic Syndrome Patients with Normal Karyotypes." Blood 136, Supplement 1 (2020): 44–45. http://dx.doi.org/10.1182/blood-2020-138368.

Full text

Abstract:

Purpose: Somatic mutations are common in myelodysplastic syndrome (MDS), but its risk stratification is mainly based on cytogenetics. This study was to explore the prognostic significance of somatic mutations in MDS patients with normal karyotypes. Patients and Methods: Three hundred and four patients with MDS were enrolled in this retrospective study. A genomic panel of 127 gene targets were detected by next-generation sequencing. Results: Two hundred and Eighty-one (92.4%) patients carried at least one somatic mutation, while cytogenetics identified abnormalities in 140 (46.1%) patients. The

APA, Harvard, Vancouver, ISO, and other styles

6

Xiao, Yajuan, Yuanlu Huang, Na Xu, et al. "Chromosomal Instability: A Probable Unfavorable Prognostic Factor For Patients Of Myeloidysplastic Syndromes." Blood 122, no. 21 (2013): 5243. http://dx.doi.org/10.1182/blood.v122.21.5243.5243.

Full text

Abstract:

Abstract Objective Myelodysplastic syndromes (MDS) are a group of heterogeneous hematopoetic stem cell clonal disorders with a high frequency of karyotypic abnormalities (40-60%). Among karyotypic abnormalities, abnormal chromosome numbers (aneuploidy) occurs frequently. In aneuploidy, chromosomal instability (CIN) is defined as persistent mis-segregation of whole chromosomes and is caused by defects during mitosis with an odd number of chromosomes. CIN is associated with tumor heterogenesis, multidrug resistance and aggressiveness in solid tumor. Hence, we performed a one-center study on MDS

APA, Harvard, Vancouver, ISO, and other styles

7

Almefty, Kaith K., Svetlana Pravdenkova, Jeffrey R. Sawyer, and Ossama Al-Mefty. "Impact of cytogenetic abnormalities on the management of skull base chordomas." Journal of Neurosurgery 110, no. 4 (2009): 715–24. http://dx.doi.org/10.3171/2008.9.jns08285.

Full text

Abstract:

Object Cytogenetic studies of chordomas are scarce and show multiple changes involving different chromosomes. These abnormalities are implicated in the pathogenesis of chordoma, but the clinical significance of these changes is yet to be determined. In this study, the authors discuss the cytogenetic changes in a large series of skull base chordomas with long-term follow-up and focus on the impact of these changes on the prognosis, progression, and management of the disease. Methods The karyotypes of chordomas in 64 patients (36 men and 28 women) were studied in relation to survival and recurre

APA, Harvard, Vancouver, ISO, and other styles

8

Hasanova A.T. and Jafarova G.A. "Relationship of human heterochromatin and congenital malformations." Journal of Theoretical, Clinical and Experimental Morphology 2, no. 3-4 (2020): 54–56. http://dx.doi.org/10.28942/jtcem.v2i3-4.121.

Full text

Abstract:

Aim. The variability of centromeric heterochromatin of the chromosome pairs 1,9 and 16 was studied in material pro- vided by the Cytogenetic Counselling Centre. Materials and methods. The size of bands 1q12, 9q12 and 16q11 was classified as normal, larger, very large, narrow and pericentric inversion. The karyotypes under study were divided into four groups: (I) from persons with abnormal karyotype and abnor-mal phenotype, ( I I ) from persons with abnormal phenotype and normal karyotype, (III) from healthy nearest relatives (parents and sibs) of persons with abnormal phenotype and karyo

APA, Harvard, Vancouver, ISO, and other styles

9

Guha, Debasree, and Sayan Banerjee. "Cyclopia syndrome with normal karyotype." Indian Journal of Medical Research 152, no. 7 (2020): 57. http://dx.doi.org/10.4103/ijmr.ijmr_1893_19.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

Beck, Richard J., and Noemi Andor. "Abstract 2486: Decoding tumor evolution through fitness landscapes of aneuploid cells." Cancer Research 85, no. 8_Supplement_1 (2025): 2486. https://doi.org/10.1158/1538-7445.am2025-2486.

Full text

Abstract:

Abstract Aneuploidy, prevalent in most solid tumors, significantly alters cellular phenotype and fitness. Despite its critical role in tumor evolution, a detailed quantitative understanding of its evolutionary dynamics remains elusive. To address this gap, we developed ALFA-K, a novel method to infer the fitness landscape of chromosome-level karyotypes. Utilizing longitudinal single-cell karyotype data from evolving cell populations, our method estimates the fitness of thousands of karyotypes proximal to the input data in karyotype space, enabling predictions of unseen karyotypes. We validated

APA, Harvard, Vancouver, ISO, and other styles

11

Rigolin, Gian Matteo, Francesca Cibien, Sara Martinelli, et al. "Chromosome aberrations detected by conventional karyotyping using novel mitogens in chronic lymphocytic leukemia with “normal” FISH: correlations with clinicobiologic parameters." Blood 119, no. 10 (2012): 2310–13. http://dx.doi.org/10.1182/blood-2011-11-395269.

Full text

Abstract:

Abstract It is unclear whether karyotype aberrations that occur in regions uncovered by the standard fluorescence in situ hybridization (FISH) panel have prognostic relevance in chronic lymphocytic leukemia (CLL). We evaluated the significance of karyotypic aberrations in a learning cohort (LC; n = 64) and a validation cohort (VC; n = 84) of patients with chronic lymphocytic leukemia with “normal” FISH. An abnormal karyotype was found in 21.5% and 35.7% of cases in the LC and VC, respectively, and was associated with a lower immunophenotypic score (P = .030 in the LC, P = .035 in the VC), adva

APA, Harvard, Vancouver, ISO, and other styles

12

McFadden, Patrick, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T. Prado, and Wendy Shertz. "Monozygotic Twins Discordant for Trisomy 13." Pediatric and Developmental Pathology 20, no. 4 (2017): 340–47. http://dx.doi.org/10.1177/1093526616686471.

Full text

Abstract:

Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype. The surv

APA, Harvard, Vancouver, ISO, and other styles

13

Chauffaille, Maria de Lourdes L. F., Eliana Azevedo Marques, Jose Salvador Rodrigues de Oliveira, et al. "Detection of trisomy 12 by fluorescent in situ hybridization (FISH) in chronic lymphocytic leukemia." Genetics and Molecular Biology 23, no. 3 (2000): 531–33. http://dx.doi.org/10.1590/s1415-47572000000300005.

Full text

Abstract:

Chronic lymphocytic leukemia (CLL) presents a varying incidence of karyotypic abnormalities whose detection is complicated by difficulties in obtaining mitosis for analysis in this type of mature lymphocyte disorder. Since the introduction of molecular cytogenetics (FISH = fluorescent in situ hybridization), applying centromeric probes for chromosome 12 has made it possible to detect a higher percentage of trisomy 12 cases. The objective of the present study was to detect trisomy 12 by FISH (alpha satellite probe) in 13 patients with CLL whose karyotypes by G-banding were either normal or inad

APA, Harvard, Vancouver, ISO, and other styles

14

Cha, Yongjun, Kwang-Sung Ahn, Juwon Park, et al. "Whole Genome Association Study in Acute Myeloid Leukemia with a Normal Karyotype, Using a Single-Nucleotide Polymorphism (SNP) Analysis." Blood 110, no. 11 (2007): 4253. http://dx.doi.org/10.1182/blood.v110.11.4253.4253.

Full text

Abstract:

Abstract As a result of numerous genetic aberrations, acute myeloid leukemia (AML) present with very heterogeneous clinical features. Moreover, structural and numerical chromosome aberrations currently comprise the most important basis for predicting these heterogeneous outcomes. However, 30 to 50 percent of AML patients have cytogenetically normal karyotypes. Though submicroscopic genetic alterations (such as NPM1, CEBPA, MLL-PTD) are increasingly being used for clinical purposes, additional markers with prognostic or predictive value are still lacking in this group. In this study, we perform

APA, Harvard, Vancouver, ISO, and other styles

15

Song, Mingzhu, Tun Zhang, Dongdong Yang, et al. "Chromosomal aberrations and prognostic analysis of secondary acute myeloid leukemia—a retrospective study." PeerJ 11 (May 15, 2023): e15333. http://dx.doi.org/10.7717/peerj.15333.

Full text

Abstract:

Background Secondary acute myeloid leukemia (S-AML) patients generally have a poor prognosis, but the chromosomal aberrations of S-AML have been rarely reported. We aimed to explore the chromosomal aberrations and clinical significance in patients with S-AML. Patients and methods The clinical characteristics and karyotypes of 26 patients with S-AML were retrospectively analyzed. The overall survival (OS) was measured from the time of the patients’ transition to AML (i.e., at S-AML diagnosis). Results The study included 26 S-AML patients (13 males and 13 females), with a median age of 63 years

APA, Harvard, Vancouver, ISO, and other styles

16

Pullarkat, Vinod, Marilyn L. Slovak, Kenneth J. Kopecky, Stephen J. Forman, and Frederick R. Appelbaum. "Impact of cytogenetics on the outcome of adult acute lymphoblastic leukemia: results of Southwest Oncology Group 9400 study." Blood 111, no. 5 (2008): 2563–72. http://dx.doi.org/10.1182/blood-2007-10-116186.

Full text

Abstract:

We examined the prognostic impact of cytogenetics on the outcome of 200 acute lymphoblastic leukemia (ALL) patients 15 to 65 years of age enrolled in Southwest Oncology Group (SWOG)–9400 study. Evaluable cytogenetics or fluorescence in situ hybridization studies were available in 140 (70%) patients. Four karyotype categories (normal [n = 31, 22%], t(9;22)/BCR/ABL1 [n = 36, 26%], other unfavorable [−7, +8, or 11q23 rearrangement, n = 19, 13%], and miscellaneous [n = 54, 39%]) and the biologically and clinically relevant ALL ploidy subgroups were prospectively defined. Overall survival (OS) decr

APA, Harvard, Vancouver, ISO, and other styles

17

Bozkurt, Süreyya, Yahya Büyükaşık, Haluk Demiroğlu, et al. "Cytogenetic anomalies in Multiple Myeloma patients:A single center study." Genetics & Applications 3, no. 1 (2019): 51. http://dx.doi.org/10.31383/ga.vol3iss1pp51-56.

Full text

Abstract:

Conventional karyotyping in the patients with Multiple myeloma (MM) is very important. Because chromosomal abnormalities which detected in these patients have diagnostic and prognostic value. In this retrospective study we aim to evaluate cytogenetic abnormalities in 133 MM patients which diagnosed at the Hematology Department of Hacettepe University. Samples were treated with trypsin and stained with Giemsa (GTG banding). 20 metaphases of each patient were examined and karyotypes were formed. Cytogenetic results of the patient’s bone marrow samples were not obtained in 19 patients, while in 1

APA, Harvard, Vancouver, ISO, and other styles

18

Downie, Ben J., Harry P. Erba, Richard M. Stone, David A. Rizzieri, and James M. Foran. "Monosomal Karyotype Is Predictive of Poor Response to Therapy and Worse Overall Survival in Secondary Acute Myeloid Leukemia (sAML); Analysis of a Multi-Center Phase II Study of Amonafide and Cytarabine Induction Therapy." Blood 114, no. 22 (2009): 2076. http://dx.doi.org/10.1182/blood.v114.22.2076.2076.

Full text

Abstract:

Abstract Abstract 2076 Poster Board II-53 Background Recently, further refinement of the “unfavorable” cytogenetic category in AML demonstrated that a “monosomal karyotype” (MK+) – defined as two or more distinct autosomal chromosome monosomies or one single autosomal monosomy in the presence of structural abnormalities – carries a markedly inferior prognosis to that of a “non-monosomal karyotype” (MK-) – defined as a group with various non-core binding factor (CBF) cytogenetic abnormalities but who are MK negative (J. Clin Onc 26:4791). This finding was based on data from patients predominant

APA, Harvard, Vancouver, ISO, and other styles

19

Terré, Christine, and Victoria Raggueneau. "Double insertion in normal karyotype CML." Blood 137, no. 17 (2021): 2418. http://dx.doi.org/10.1182/blood.2021010829.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Mukhopadhyay, S., S. Biswas, and S. Vindla. "Familial cystic hygroma with normal karyotype." Journal of Obstetrics and Gynaecology 26, no. 8 (2006): 836. http://dx.doi.org/10.1080/01443610600994908.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Gallagher, Robert E. "Dueling mutations in normal karyotype AML." Blood 106, no. 12 (2005): 3681–82. http://dx.doi.org/10.1182/blood-2005-08-3444.

Full text

APA, Harvard, Vancouver, ISO, and other styles

22

Mula, R., A. Goncé, M. Bennásar, et al. "Increased Nuchal Translucency and Normal Karyotype." Obstetrical & Gynecological Survey 67, no. 5 (2012): 279–80. http://dx.doi.org/10.1097/ogx.0b013e3182562cf0.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Souka, Athena P., Constantin S. von Kaisenberg, Jonathan A. Hyett, Jiri D. Sonek, and Kypros H. Nicolaides. "Increased nuchal translucency with normal karyotype." American Journal of Obstetrics and Gynecology 192, no. 4 (2005): 1005–21. http://dx.doi.org/10.1016/j.ajog.2004.12.093.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Nakamura, Hideo, Naoki Sadamori, Ippei Sasagawa, et al. "Acute nonlymphocytic leukemia with normal karyotype." Cancer Genetics and Cytogenetics 51, no. 1 (1991): 67–71. http://dx.doi.org/10.1016/0165-4608(91)90010-r.

Full text

APA, Harvard, Vancouver, ISO, and other styles

25

Loizeau, S., M. V. Senat, J. Ronne, S. Conderc, and Y. Ville. "P021: Nuchal anomalies with normal karyotype." Ultrasound in Obstetrics and Gynecology 22, S1 (2003): 76–77. http://dx.doi.org/10.1002/uog.481.

Full text

APA, Harvard, Vancouver, ISO, and other styles

26

Watson, William J., John M. Thorp, and John W. Seeds. "Familial cystic hygroma with normal karyotype." Prenatal Diagnosis 10, no. 1 (1990): 37–40. http://dx.doi.org/10.1002/pd.1970100107.

Full text

APA, Harvard, Vancouver, ISO, and other styles

27

Schnittger, Susanne, Torsten Haferlach, Petro E. Petrides, Wolfgang Kern, and Claudia Schoch. "JAK2 Mutation Screening and Chromosome Analysis Are Necessary for a Comprehensive Diagnostic Work up in CMPD: A Study on 469 Cases." Blood 106, no. 11 (2005): 4963. http://dx.doi.org/10.1182/blood.v106.11.4963.4963.

Full text

Abstract:

Abstract The diagnosis of BCR-ABL negative chronic myeloproliferative disorders (CMPD) is still a challenge for the morphologist and clinician, mainly because of overlapping phenotypes of essential thrombocythemia (ET), polycythemia vera (PV), idiopathic myelofibrosis (IMF) and non-malignant reactive phenotypes. Recently, a new mutation in JAK2 leading to V617F exchange in exon 12 was described in these entities. Therefore, we developed a rapid and easy LightCycler based melting curve assay and screened 469 patients with various malignancies for the respective JAK2 mutation using cDNA prepared

APA, Harvard, Vancouver, ISO, and other styles

28

Mehta, S., S. Singh, and Wang Ning Ling. "Study on the Relativity between Cytogenetics and Cytomorphology and its Prognosis Significance in Children with Acute Myelogenous Leukemia." Journal of Gandaki Medical College-Nepal 10, no. 2 (2018): 35–41. http://dx.doi.org/10.3126/jgmcn.v10i2.20806.

Full text

Abstract:

Objective: The main objective of this study was to retrospectively evaluate that the cytogenetic abnormalities is an important prognostic factor for the cure of acute myeloid leukemia (AML).Methods: This retrospective study enrolled newly diagnosed 70 cases (37 males and 33 females, aged 10.1 months to 14.5 years) of pediatric patients with AML during 2010 January - 2016 February from the Second Affiliated Hospital of Anhui Medical University. Excluding criteria were cases secondary to treatment-related MDS and AML. Samples were obtained from bone marrow cells in patients after treatment on th

APA, Harvard, Vancouver, ISO, and other styles

29

Usvasalo, Anu, Riikka Räty, Arja Harila-Saari, et al. "Acute Lymphoblastic Leukemia with “Normal” Karyotype is not without Genomic Aberrations." Blood 112, no. 11 (2008): 1491. http://dx.doi.org/10.1182/blood.v112.11.1491.1491.

Full text

Abstract:

Abstract Development of cytogenetic methods has contributed to the understanding that ALL is not a homogenous disease. Detection of structural and numerical alterations in the chromosomes of lymphoblasts has identified several different ALL subgroups. G-banding reveals about 60–70% of these changes. The development of FISH and PCR methods has decreased the proportion of apparently normal karyotype to less than 20%. Still a part of ALL patients have no chromosomal aberrations detected with conventional cytogenetics. It seems likely, however, that ALL with a normal karyotype reflects rather our

APA, Harvard, Vancouver, ISO, and other styles

30

Kaddouri-Kaddouri, Salma, Cintia Concepción-Lorenzo, Rubí N. Rodríguez-Díaz, et al. "Does female with chromosome translocation have a normal response to controlled ovarian hyperstimulation?" International Research Journal of Medicine and Medical Sciences 8, no. 4 (2020): 109–15. http://dx.doi.org/10.30918/irjmms.84.20.043.

Full text

Abstract:

Patients with chromosomal translocation have been reported to have high risk of reproductive failure, lower ovarian response, recurrent pregnancy loss and implantation failure. The literature is not conclusive, and our objective is to study if female balanced translocation (BT) does affect the controlled ovarian stimulation (COS). We carried out a retrospective analysis of 3249 karyotypes between 2008 and 2016, including 2276 females and 973 males. 12 women (0.5%) with BT were compared with 93 control normal karyotype group (CN) in both female and male partner. An equivalent control group (EQc

APA, Harvard, Vancouver, ISO, and other styles

31

Mahjoubi, F., and N. Zolfagary. "A Partial Trisomy 2p(p21→pter) Derived from a Paternal t(2;4)(p21;q33) Karyotype." Balkan Journal of Medical Genetics 13, no. 1 (2010): 39–43. http://dx.doi.org/10.2478/v10034-010-0017-5.

Full text

Abstract:

A Partial Trisomy 2p(p21→pter) Derived from a Paternal t(2;4)(p21;q33) KaryotypeWe describe a 7-year-old boy with additional material on 4q whose karyotype was 46, XY, der(4) t(2;4)(p21: q33). The father's karyotype was 46, XY, t(2;4)(p21;q33) and the mother's was normal. These results indicate that the extra material on 4q in the patient originated from the father's chromosome 2p. The patient had dysmorphic facial features, prominent ears, long fingers, developmental delay, speech delay and suffered from seizures.

APA, Harvard, Vancouver, ISO, and other styles

32

Göhring, Gudrun, Kyra Michalova, H. Berna Beverloo, et al. "Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome." Blood 116, no. 19 (2010): 3766–69. http://dx.doi.org/10.1182/blood-2010-04-280313.

Full text

Abstract:

Abstract To identify cytogenetic risk factors predicting outcome in children with advanced myelodysplastic syndrome, overall survival of 192 children prospectively enrolled in European Working Group of Myelodysplastic Syndrome in Childhood studies was evaluated with regard to karyotypic complexity. Structurally complex constitutes a new definition of complex karyotype characterized by more than or equal to 3 chromosomal aberrations, including at least one structural aberration. Five-year overall survival in patients with more than or equal to 3 clonal aberrations, which were not structurally c

APA, Harvard, Vancouver, ISO, and other styles

33

Mufti, Ghulam J., Steven D. Gore, Valeria Santini, et al. "Influence of Karyotype On Overall Survival in Patients with Higher-Risk Myelodysplastic Syndrome Treated with Azacitidine or a Conventional Care Regimen." Blood 114, no. 22 (2009): 1755. http://dx.doi.org/10.1182/blood.v114.22.1755.1755.

Full text

Abstract:

Abstract Abstract 1755 Poster Board I-781 Background Karyotypic abnormalities are common in myelodysplastic syndromes (MDS), and specific chromosomal abnormalities are associated with poor prognosis. The phase III AZA-001 study (Lancet Oncol, 2009) showed azacitidine (AZA) prolonged overall survival (OS) regardless of IPSS cytogenetic risk category. This analysis assessed the effects of specific cytogenetic abnormalities on OS in patient (pt) subgroups treated with AZA or a conventional care regimen (CCR). Methods Pts with higher-risk MDS (FAB RAEB, RAEB-t, or CMML and IPSS Int-2 or High) were

APA, Harvard, Vancouver, ISO, and other styles

34

Tilak, Preetha, Sonia Dhawan, and Sayee Rajangam. "Congenital Heart Defects and Non-Cardiac Malformations in Patients with Normal Karyotype." Indian Journal of Anatomy 7, no. 1 (2018): 7–11. http://dx.doi.org/10.21088/ija.2320.0022.7118.1.

Full text

APA, Harvard, Vancouver, ISO, and other styles

35

Chauffaille, Maria de Lourdes Lopes Ferrari, Vicente Coutinho, Mihoko Yamamoto, and José Kerbauy. "Combined method for simultaneous morphology, immunophenotype and karyotype (MAC) in leukemias." Sao Paulo Medical Journal 115, no. 1 (1997): 1336–42. http://dx.doi.org/10.1590/s1516-31801997000100004.

Full text

Abstract:

In the present study, a combined method (CM) for attaining simultaneous identification of leukemic cell morphology, karyotype and immunophenotype has been evaluated in 21 patients with acute leukemia and 1 with CML in blast crisis were studied for morphology, citochemistry, immunophenotype and karyotype. Karyotype was performed in a bone marrow sample by using conventional techniques. In each case, direct method (DM) and/or three cultures were tried. The CM consisted in separating a small part of the material resulting from any of the cultures or DM, preparing slides through cytospin and immun

APA, Harvard, Vancouver, ISO, and other styles

36

Balleisen, Sebastian, Hildebrand Barbara, Royer-Prokora Brigitte, et al. "Cytogenetic Remission Status after Induction Chemotherapy for AML and High-Risk MDS Predicts Long-Term Outcome." Blood 104, no. 11 (2004): 3009. http://dx.doi.org/10.1182/blood.v104.11.3009.3009.

Full text

Abstract:

Abstract Cytogenetic findings at diagnosis have an important impact on prognosis in AML and MDS. Therefore, treatment is commonly stratified according to karyotype. Another important prognostic factor is remission status after induction chemotherapy. However, the diagnosis of remission, and the resulting treatment decisions, are usually not based on cytogenetic findings, but rely on peripheral blood counts and bone marrow blast cell counts. We analysed the prognostic impact of cytogenetic remission status in 115 patients with abnormal karyotype who received induction chemotherapy because of AM

APA, Harvard, Vancouver, ISO, and other styles

37

Chen, Jianhong, Qun Fang, Baojiang Chen, Yi Zhou, and Yanmin Luo. "Study on the Imprinting Status of Insulin-Like Growth Factor II (IGF-II) Gene in Villus during 6–10 Gestational Weeks." Obstetrics and Gynecology International 2010 (2010): 1–4. http://dx.doi.org/10.1155/2010/965905.

Full text

Abstract:

Objective. To compare the difference of imprinting status of insulin-like growth factor II (IGF-II) gene in villus between normal embryo development group and abnormal embryo development group and to investigate the relationship between karyotype and the imprinting status of IGF-II gene.Methods. A total of 85 pregnant women with singleton pregnancy were divided into two groups: one with abnormal embryo development (n=38) and the other with normal embryo development (n=47). Apa I polymorphism of IGF-II gene in chorionic villus was assayed with reverse transcriptase polymerase chain reaction (RT

APA, Harvard, Vancouver, ISO, and other styles

38

Borys, Dariusz, and Jerome B. Taxy. "Congenital Diaphragmatic Hernia and Chromosomal Anomalies: Autopsy Study." Pediatric and Developmental Pathology 7, no. 1 (2004): 35–38. http://dx.doi.org/10.1007/s10024-003-2133-7.

Full text

Abstract:

In a 10-year review of autopsy records from Lutheran General Hospital (1992–2002), 13 cases of congenital diaphragmatic hernia (CDH) were found. The fetuses ranged between 21 and 35 wk of gestation. Four were born alive and five were diagnosed prenatally. The defect was left-sided in 11 cases. Cytogenetic study revealed five cases with normal karyotype and three cases with complex karyotypes. In five cases, no karyotype was performed. The three complex karyotypes were: 46,XX,del(8)(p23.1), 47,XX,+i(12)(p10)[6]/46XX[14] (Pallister-Killian syndrome), and 47,XY,+der(22)t(11:22) (q23.3:q11.2). The

APA, Harvard, Vancouver, ISO, and other styles

39

Bilardo, C. M., M. A. Muller, and E. Pajkrt. "OC041: Increased nuchal translucency with normal karyotype." Ultrasound in Obstetrics and Gynecology 22, S1 (2003): 11–12. http://dx.doi.org/10.1002/uog.255.

Full text

APA, Harvard, Vancouver, ISO, and other styles

40

Nam, S., and Y. Lee. "P07.11: Increased nuchal translucency with normal karyotype." Ultrasound in Obstetrics & Gynecology 38, S1 (2011): 193. http://dx.doi.org/10.1002/uog.9701.

Full text

APA, Harvard, Vancouver, ISO, and other styles

41

Haferlach, Claudia, Manja Meggendorfer, Wolfgang Kern, Susanne Schnittger, and Torsten Haferlach. "Characterization of CMML with Normal Karyotype in Comparison to CMML with Aberrant Karyotype." Blood 126, no. 23 (2015): 1674. http://dx.doi.org/10.1182/blood.v126.23.1674.1674.

Full text

Abstract:

Abstract Background: CMML is a myelodysplastic/myeloproliferative neoplasm with distinct morphological and genetic features. Based on differences in blast count CMML is divided into CMML-1 (<1% blasts in the peripheral blood (pB) and <10% in the bone marrow (BM)) and CMML-2 (5-19% blasts in pB, 10-19% in BM or presence of Auer rods). Clonal cytogenetic abnormalities are detected in only 20-40% of patients by chromosome banding analysis (CBA) while >90% of patients harbor at least one molecular mutation. The most frequent cytogenetic abnormalities include abnormalities of chromosome 7,

APA, Harvard, Vancouver, ISO, and other styles

42

Dr., Sujithaa Nagarajan, Suma H. Y. Dr., and Latha Chaturvedula Dr. "Assessment of Chromosomal Abnormalities in Couples with Recurrent Pregnancy Loss." International Journal of Research and Review 6, no. 3 (2019): 147–54. https://doi.org/10.5281/zenodo.3987939.

Full text

Abstract:

Previous studies have demonstrated the type of chromosomal abnormalities found among couples with recurrent pregnancy loss. But a majority of the couples show a normal karyotype. The present study was undertaken to inquire the nature of cytogenetic abnormalities by routine karyotyping and c-banding whenever required, among couples with recurrent pregnancy loss and to compare it with fertile couples. Among couples, women with the history of two or more than two spontaneous abortions ≤ 24 weeks of gestation were included and couples with the history of Diabetes mellitus, thyroid disorders and

APA, Harvard, Vancouver, ISO, and other styles

43

Victor, Ekundare Olugbemi, Fagbuaro Omotayo, and Adeniran Idowu Isaac. "Preliminary cytogenetic study of <em style="mso-bidi-font-style: normal;">Ctenopoma kingsleyae</em> from Esa-Odo water reservoir, Osun State, Nigeria." Journal of Science of the University of Kelaniya 17, no. 1 (2024): 9–13. http://dx.doi.org/10.4038/josuk.v17i1.8100.

Full text

Abstract:

Ctenopoma kingsleyae belongs to the family Anabantidae covers a wide geographic region. It has been morphologically described by a number of authors, yet it is lacking in adequate cytogenetic information, which is a setback to understanding its karyotypic evolution. This study, therefore, describes the karyotype of C. kingsleyae (n = 10) from Esa-Odo, Reservoir, Osun State, Nigeria. Metaphase chromosome spread was obtained from the gills of fish after intraperitoneal injection with 0.05% colchicines. Slides prepared were stained with Giemsa stain, images of metaphase spread were taken digitall

APA, Harvard, Vancouver, ISO, and other styles

44

Gupta, Vikas, Carol Brooker, Jennifer A. Tooze, et al. "Clinical Relevance of Cytogenetics Abnormalities in Adult Patients with Acquired Aplastic Anaemia." Blood 106, no. 11 (2005): 3748. http://dx.doi.org/10.1182/blood.v106.11.3748.3748.

Full text

Abstract:

Abstract The clinical relevance of cytogenetics abnormalities in aplastic anaemia (AA) patients at time of diagnosis is unclear. We evaluated the clinical course of 81 AA patients with successful cytogenetics at diagnosis and treated with immunosuppressive therapy (IST) from January 1993 to March 2004. A cytogenetic study was considered to be successful if there were a minimum of 15 evaluable metaphases in the absence of a clonal abnormality. Response to IST, survival and later clonal complications in patients with an abnormal karyotype (n=10) was compared to those with a normal karyotype (n=7

APA, Harvard, Vancouver, ISO, and other styles

45

Rozell, Shaina A., Biruk Mengistu, Naseema Gangat, et al. "The Effect of Number of Metaphases Studied and Abnormal Metaphase Percentage On Cytogenetic Risk Stratification in Primary Myelofibrosis." Blood 120, no. 21 (2012): 1742. http://dx.doi.org/10.1182/blood.v120.21.1742.1742.

Full text

Abstract:

Abstract Abstract 1742 Background Karyotype is one of the most potent and reproducible risk factors for both overall (OS) and leukemia-free (LFS) survival in primary myelofibrosis (PMF) (Blood 2011;118:4595). It is currently not clear if the number of metaphases studied or the abnormal metaphase percentage alters this prognostic impact. Methods: An updated Mayo Clinic database of karyotypically- and DIPSS-plus-annotated patients with PMF was used to identify a consecutive series of patients and their cytogenetic information obtained at time of referral was centrally re-reviewed. Cytogenetic re

APA, Harvard, Vancouver, ISO, and other styles

46

Rigolin, Gian Matteo, Francesca Cibien, Sara Martinelli, et al. "Chromosome Aberrations by Conventional Karyotyping in Chronic Lymphocytic Leukemia Carrying No Aberration by Fluorescence in Situ Hybridization: Correlation with Prognostic Parameters and Clinical Features." Blood 118, no. 21 (2011): 1459. http://dx.doi.org/10.1182/blood.v118.21.1459.1459.

Full text

Abstract:

Abstract Abstract 1459 Background. Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease. Adverse prognostic parameters include stage, CD38 and/or ZAP70 expression, the unmutated configuration of the variable region of the Ig heavy chain gene (IGHV) and the presence of specific chromosome aberrations. Using fluorescence in situ hybridization (FISH) with probes detecting trisomy 12 and deletions at 13q14, 11q22–23/ATM and 17p13/p53, approximately 60–80% of the cases carry an abnormality. Patients without FISH aberrations (“normal” FISH) have a relatively favourable outcome. I

APA, Harvard, Vancouver, ISO, and other styles

47

Smadja, Nicole Véronique, Christian Bastard, Christophe Brigaudeau, Dominique Leroux, and Christophe Fruchart. "Hypodiploidy is a major prognostic factor in multiple myeloma." Blood 98, no. 7 (2001): 2229–38. http://dx.doi.org/10.1182/blood.v98.7.2229.

Full text

Abstract:

Conventional karyotypes performed before any treatment in 208 patients with multiple myeloma were reviewed by the Groupe Français de Cytogénétique Hématologique. A total of 138 patients displayed complex chromosomal abnormalities (CCAs). According to the chromosome number pattern, a first group of 75 patients had a hyperdiploid karyotype. A second group of 63 patients referred to as the hypodiploid group had either pseudodiploid, hypodiploid, or near-tetraploid karyotypes. Of 159 treated patients available for survival analysis, 116 had an abnormal karyotype. The comparison of overall surv

APA, Harvard, Vancouver, ISO, and other styles

48

Hirpara, Ankit, Mathew Bloomfield, and Peter Duesberg. "Speciation Theory of Carcinogenesis Explains Karyotypic Individuality and Long Latencies of Cancers." Genes 9, no. 8 (2018): 402. http://dx.doi.org/10.3390/genes9080402.

Full text

Abstract:

It has been known for over 100 years that cancers have individual karyotypes and arise only years to decades after initiating carcinogens. However, there is still no coherent theory to explain these definitive characteristics of cancer. The prevailing mutation theory holds that cancers are late because the primary cell must accumulate 3–8 causative mutations to become carcinogenic and that mutations, which induce chromosomal instability (CIN), generate the individual karyotypes of cancers. However, since there is still no proven set of mutations that transforms a normal to a cancer cell, we ha

APA, Harvard, Vancouver, ISO, and other styles

49

Haferlach, Claudia, Cristina Mecucci, Susanne Schnittger, et al. "AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features." Blood 114, no. 14 (2009): 3024–32. http://dx.doi.org/10.1182/blood-2009-01-197871.

Full text

Abstract:

Acute myeloid leukemia (AML) with mutated NPM1 usually carries normal karyotype (NK), but it may harbor chromosomal aberrations whose significance remains unclear. We addressed this question in 631 AML patients with mutated/cytoplasmic NPM1. An abnormal karyotype (AK) was present in 93 of 631 cases (14.7%), the most frequent abnormalities being +8, +4, −Y, del(9q), +21. Chromosome aberrations in NPM1-mutated AML were similar to, but occurred less frequently than additional chromosome changes found in other AML with recurrent cytogenetic abnormalities according to WHO classification. Four of th

APA, Harvard, Vancouver, ISO, and other styles

50

Haase, Detlef, Ulrich Germing, Julie Schanz, et al. "New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients." Blood 110, no. 13 (2007): 4385–95. http://dx.doi.org/10.1182/blood-2007-03-082404.

Full text

Abstract:

We have generated a large, unique database that includes morphologic, clinical, cytogenetic, and follow-up data from 2124 patients with myelodysplastic syndromes (MDSs) at 4 institutions in Austria and 4 in Germany. Cytogenetic analyses were successfully performed in 2072 (97.6%) patients, revealing clonal abnormalities in 1084 (52.3%) patients. Numeric and structural chromosomal abnormalities were documented for each patient and subdivided further according to the number of additional abnormalities. Thus, 684 different cytogenetic categories were identified. The impact of the karyotype on the

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!