164,741 results match your criteria cytogenetic abnormalities


Prognostic significance of chromosomal abnormalities at relapse in children with relapsed acute myeloid leukemia: A retrospective cohort study of the Relapsed AML 2001/01 Study.

Pediatr Blood Cancer 2021 Sep 17:e29341. Epub 2021 Sep 17.

Pediatric Oncology, Cancer Center Amsterdam, Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

Background: In addition to treatment response, cytogenetic and molecular aberrations are the most important prognostic factors in children with de novo acute myeloid leukemia (AML). However, little is known about cytogenetics at the time of relapse.

Methods: This international study analyzed the prognostic value of cytogenetic profiles and karyotypic changes in pediatric relapsed AML in relation to the probability of event-free (pEFS) and overall survival (pOS). Read More

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September 2021

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Ital J Pediatr 2021 Sep 16;47(1):188. Epub 2021 Sep 16.

Department of Medical Genetics, National Institute of Health, Rabat, Morocco.

Background: 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations.

Case Presentation: We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Read More

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September 2021

ASXL1 and STAG2 are Common Mutations in GATA2 Deficiency Patients with Bone Marrow Disease and Myelodysplastic Syndrome.

Blood Adv 2021 Sep 16. Epub 2021 Sep 16.

National Insitutes of Health, Bethesda, Maryland, United States.

GATA2 Deficiency patients harbor de novo or inherited germline mutations in the GATA2 transcription factor gene, predisposing them to myeloid malignancies. There is considerable variation in disease progression, even among family members with the same mutation in GATA2. We investigated somatic mutations in 106 patients with GATA2 Deficiency to identify acquired mutations that are associated with myeloid malignancies. Read More

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September 2021

[SOME CYTOGENETIC PARAMETERS IN CHILDREN WITH ACUTE LEUKEMIA ASSOCIATED WITH COVID-19 INFECTION (CASE REPORTS)].

Georgian Med News 2021 Jul-Aug(316-317):119-123

2Tbilisi State Medical University, Georgia.

There are data about 6 cases of acute leukemia in children who have been diagnosed with COVID-19 infection 1-1,5 months before, or at the same time. In 5 patients lymphoblastic and in one monoblastic acute leukemia were diagnosed. The course of leukemia passed without any particular complications. Read More

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September 2021

Accuracy of the mid-trimester ultrasound scan in the detection of fetal congenital anomalies in a reference center in Northeastern Brazil.

J Gynecol Obstet Hum Reprod 2021 Sep 9;50(10):102225. Epub 2021 Sep 9.

Department of Fetal Medicine, Caliper Imaging School, Salvador-BA, Brazil; Department of Obstetrics and Gynecology, Federal University of Bahia (UFBA), Salvador-BA, Brazil.

Objective: To assess the performance of a basic mid-trimester fetal ultrasound scan protocol for the diagnosis of congenital anomalies by calculating its accuracy, sensitivity, and specificity.

Methods: This longitudinal cohort study involved singleton pregnant women recruited at the mid-trimester fetal ultrasound scan through the postnatal evaluation of congenital anomalies. Pregnant women who underwent a routine mid-trimester ultrasound scan for fetal abnormalities at 20-24 weeks of gestation were enrolled in this study. Read More

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September 2021

Prognostic value of the revised International Prognostic Scoring System five-group cytogenetic abnormality classification for the outcome prediction of hematopoietic stem cell transplantation in pediatric myelodysplastic syndrome.

Bone Marrow Transplant 2021 Sep 10. Epub 2021 Sep 10.

Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Nagoya First Hospital, Aichi, Japan.

Cytogenetic abnormalities are a major risk factor for relapse after hematopoietic stem cell transplantation (HSCT) for myelodysplastic syndrome (MDS). We aimed to evaluate the value of the five-group cytogenetic classification according to the revised International Prognostic Scoring System (R-IPSS) for predicting the outcome after HSCT in pediatric patients with MDS. We retrospectively analyzed the Japanese registration data of 242 pediatric patients with MDS. Read More

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September 2021

Combined toxic effects of aflatoxin B and the protective role of resveratrol in Swiss albino mice.

Sci Rep 2021 Sep 10;11(1):18081. Epub 2021 Sep 10.

Department of Biology, Faculty of Science and Art, Giresun University, 28200, Giresun, Turkey.

In this study, the toxic effects of aflatoxin B (AFB) on Swiss albino mice and the protective effects of resveratrol were investigated. Physiological (body weight, liver and kidney weight), biochemical (aspartate aminotransferase-AST, alanine transaminase-ALT, blood urea nitrogen-BUN, creatinine, malondialdehyde-MDA and glutathione-GSH) and cytogenetic parameters (micronucleus-MN in buccal epithelium, erythrocyte and leukocyte cells and chromosomal aberrations-CAs) were used to determine the toxic effects. Additionally, scavenging effects of resveratrol against superoxide, hydrogen peroxide (HO) and 1,1-diphenyl-2-picrylhydrazyl (DPPH) radicals were also investigated. Read More

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September 2021

Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta.

Taiwan J Obstet Gynecol 2021 Sep;60(5):903-904

Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.

Objective: We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities.

Case Report: A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Read More

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September 2021

Evaluation of Existing QSAR Models and Structural Alerts and Development of New Ensemble Models for Genotoxicity Using a Newly Compiled Experimental Dataset.

Comput Toxicol 2021 May;18

Center for Computational Toxicology and Exposure, U.S. Environmental Protection Agency, Research Triangle Park, North Carolina, USA.

Regulatory agencies world-wide face the challenge of performing risk-based prioritization of thousands of substances in commerce. In this study, a major effort was undertaken to compile a large genotoxicity dataset (54,805 records for 9299 substances) from several public sources (e.g. Read More

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[Stratified treatment of fit and unfit acute myeloid leukemia].

Authors:
Goichi Yoshimoto

Rinsho Ketsueki 2021 ;62(8):967-977

Department of Hematology, Saga-Ken Medical Centre Koseikan.

The etiology and pathogenesis of acute myeloid leukemia (AML) have been elucidated at chromosomal and genetic levels. The classification and prognosis for its treatment has clearly involved specific chromosomal aberrations and genetic mutations. The recent comprehensive genomic analysis represented by next-generation sequencers has led to discovering new genetic mutations in AML. Read More

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September 2021

[Acute leukemia of infants and neonates].

Authors:
Mariko Eguchi

Rinsho Ketsueki 2021 ;62(8):1308-1318

Department of Pediatrics, Ehime University Graduate School of Medicine.

Leukemias diagnosed in <1-year-old infants generally have an aggressive clinical nature and unique biological characteristics. Acute lymphoblastic leukemia (ALL) in infants is still intractable and difficult to treat as compared with other pediatric ALLs, for which considerable progress in treatment outcomes has been recently achieved. Infant leukemia cells frequently carry chromosome translocations involving the 11q23 locus, resulting in the rearrangement and fusion of the KMT2A (MLL) gene. Read More

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September 2021

Pomalidomide, bortezomib, and dexamethasone at first relapse in lenalidomide-pretreated myeloma: a subanalysis of OPTIMISMM by clinical characteristics.

Eur J Haematol 2021 Sep 8. Epub 2021 Sep 8.

National and Kapodistrian University of Athens, Athens, Greece.

Objective: We evaluated the efficacy and safety of pomalidomide, bortezomib, and dexamethasone (PVd) vs bortezomib and dexamethasone (Vd) by age, renal function, and high-risk cytogenetic abnormalities in lenalidomide-pretreated patients at first relapse.

Methods: OPTIMISMM was a phase 3, multicenter, open-label, randomized study (NCT01734928; N = 559). The primary endpoint was progression-free survival (PFS). Read More

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September 2021

Autologous and allogeneic hematopoietic cell transplantation for diffuse large B-cell lymphoma-type Richter syndrome.

Blood Adv 2021 Sep;5(18):3528-3539

Center for International Blood and Marrow Transplant Research, Department of Medicine, and.

Richter syndrome (RS) represents a transformation from chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) to aggressive lymphoma, most commonly diffuse large B-cell lymphoma (DLBCL), which is associated with a dismal prognosis. Patients with DLBCL-RS have poor outcomes with DLBCL-directed therapy; thus, consolidation with hematopoietic cell transplantation (HCT) has been used, with durable remissions observed. Studies reporting HCT outcomes in patients with DLBCL-RS have been small, have not evaluated the prognostic impact of cytogenetic risk factors, and were conducted prior to the era of novel targeted therapy of CLL/SLL. Read More

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September 2021

Thalassemia, a human blood disorder.

Braz J Biol 2021 3;83:e246062. Epub 2021 Sep 3.

University of Sheffield, Faculty of Science, Department of Molecular Biology and Biotechnology, Sheffield, United Kingdom.

A group of inherited blood defects is known as Thalassemia is among the world's most prevalent hemoglobinopathies. Thalassemias are of two types such as Alpha and Beta Thalassemia. The cause of these defects is gene mutations leading to low levels and/or malfunctioning α and β globin proteins, respectively. Read More

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September 2021

A case of a patient characterized by t(8;22)(p11;q11) and BCR/FGFR1 fusion gene, who was successfully treated with haploidentical hematopoietic stem cell transplantation.

Hematology 2021 Dec;26(1):691-696

Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

The 8p11 myeloproliferative syndrome [EMS] is a rare myeloproliferative disorder which usually develops rapidly with chromosomal translocation of the fibroblast growth factor receptor 1 gene. The gene has 15 fusion partners, including the breakpoint cluster region (BCR) gene on chromosome 22. Of all the tests available, chromosome karyotype determination is the most important for the diagnosis of EMS. Read More

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December 2021

Myeloid malignancies with translocation t(4;12)(q11-13;p13): molecular landscape, clonal hierarchy and clinical outcomes.

J Cell Mol Med 2021 Sep 7. Epub 2021 Sep 7.

Sorbonne Université, Service d'Hématologie Clinique, Hôpital Pitié-Salpêtrière, APHP, Paris, France.

Translocation t(4;12)(q11-13;p13) is a recurrent but very rare chromosomal aberration in acute myeloid leukaemia (AML) resulting in the non-constant expression of a CHIC2/ETV6 fusion transcript. We report clinico-biological features, molecular characteristics and outcomes of 21 cases of t(4;12) including 19 AML and two myelodysplastic syndromes (MDS). Median age at the time of t(4;12) was 78 years (range, 56-88). Read More

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September 2021

Therapy-Related Myeloid Neoplasms in 109 Patients Following Radiation Monotherapy.

Blood Adv 2021 Sep 7. Epub 2021 Sep 7.

University of Chicago, Chicago, Illinois, United States.

Therapy-related myeloid neoplasms (t-MNs) are a late complication of cytotoxic therapy and are defined as a distinct entity by the World Health Organization. While the link between chemotherapy exposure and risk of subsequent t-MN is well-described, the association between radiation monotherapy (RT) and t-MN risk is less definitive. We analyzed 109 consecutive patients who developed t-MNs after RT and describe latencies, cytogenetic profile, mutation analyses, and clinical outcomes. Read More

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September 2021

Recognition of Philadelphia chromosome-like acute lymphoblastic leukemia as part of routine diagnostic work-up.

Int J Lab Hematol 2021 Sep 7. Epub 2021 Sep 7.

Department of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Introduction: Philadelphia chromosome (Ph)-like acute lymphoblastic leukemia (ALL) is a biologically and clinically challenging subtype of B-cell ALL which has been incorporated into the 2016 revision of the World Health classification of acute leukemia. It is independently associated with poor outcome. As it can only be reliably detected by expression profiling, it is difficult to diagnose with routine methods. Read More

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September 2021

Solving the Puzzle: The Diagnosis of Atypical Chronic Myeloid Leukemia, BCR-ABL1-Negative (aCML).

J Assoc Genet Technol 2021 ;47(3):127-131

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

Objectives: Atypical chronic myeloid leukemia, BCR-ABL1-negative (aCML), is a rare myelodysplastic/myeloproliferative neoplasm with heterogeneous clinical and genetic features, a high rate of transformation to acute myeloid leukemia (AML), and poor survival rate. The diagnosis of aCML is a diagnosis of exclusion and requires the fulfillment of strict diagnostic criteria. Until recently, there were no distinctive cytogenetic or molecular abnormalities for aCML adding to the diagnostic challenge. Read More

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January 2021

Hypodiploidy in AML.

J Assoc Genet Technol 2021 ;47(3):122-126

The International Circle of Genetics Studies, Los Angeles, CA.

Objectives: Acute myeloid leukemia (AML) is a heterogeneous malignancy of precursor myeloid cells. Identification and understanding of chromosomal abnormalities are key diagnostic and prognostic factors for patients with AML, as they play an important role in risk stratification algorithms. Hypodiploidy, a rare cytogenetic abnormality resulting in a karyotype with fewer than 46 chromosomes, is a rare finding in AML. Read More

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January 2021

Case Report: Expressive Speech Disorder in a Family as a Hallmark of 7q31 Deletion Involving the Gene.

Front Pediatr 2021 20;9:664548. Epub 2021 Aug 20.

Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.

Pathogenic variants of gene were identified first as a monogenic cause of childhood apraxia of speech (CAS), a complex disease that is associated with an impairment of the precision and consistency of movements underlying speech, due to deficits in speech motor planning and programming. variants are heterogenous; single nucleotide variants and small insertions/deletions, intragenic and large-scale deletions, as well as disruptions by structural chromosomal aberrations and uniparental disomy of chromosome 7 are the most common types of mutations. -related speech and language disorders can be classified as "-only," wherein intragenic mutations result in haploinsufficiency of the gene, or "-plus" generated by structural genomic variants (i. Read More

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Genotype-environment interaction and stability of fiber properties and growth traits in triploid hybrid clones of Populus tomentosa.

BMC Plant Biol 2021 Sep 6;21(1):405. Epub 2021 Sep 6.

Beijing Advanced Innovation Center for Tree Breeding by Molecular Design, Beijing Forestry University, Beijing, 100083, China.

Background: Clones provide a sensitive method for evaluating genotypic stability and detecting genotype-environment (G × E) interactions because of non-additive genetic effects among clones and there being no genetic effect among ramets of an ortet. With this study, we aimed to confirm and expand earlier findings, estimate stability parameters, and provide accurate estimates of clonal repeatabilities and genetic gains for a triploid breeding program of P. tomentosa Carr. Read More

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September 2021

Inter-chromosomal k-mer distances.

BMC Genomics 2021 Sep 6;22(1):644. Epub 2021 Sep 6.

School of Physics and Astronomy, Tel Aviv University, 69978, Tel Aviv, Israel.

Background: Inversion Symmetry is a generalization of the second Chargaff rule, stating that the count of a string of k nucleotides on a single chromosomal strand equals the count of its inverse (reverse-complement) k-mer. It holds for many species, both eukaryotes and prokaryotes, for ranges of k which may vary from 7 to 10 as chromosomal lengths vary from 2Mbp to 200 Mbp. Building on this formalism we introduce the concept of k-mer distances between chromosomes. Read More

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September 2021

Cytogenetic Damage of Human Lymphocytes in Humanized Mice Exposed to Neutrons and X Rays 24 h After Exposure.

Cytogenet Genome Res 2021 Sep 6:1-10. Epub 2021 Sep 6.

Center for Radiological Research, Columbia University Irving Medical Center, New York, New York, USA.

Detonation of an improvised nuclear device highlights the need to understand the risk of mixed radiation exposure as prompt radiation exposure could produce significant neutron and gamma exposures. Although the neutron component may be a relatively small percentage of the total absorbed dose, the large relative biological effectiveness (RBE) can induce larger biological DNA damage and cell killing. The objective of this study was to use a hematopoietically humanized mouse model to measure chromosomal DNA damage in human lymphocytes 24 h after in vivo exposure to neutrons (0. Read More

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September 2021

Destabilizing Effects of Ionizing Radiation on Chromosomes: Sizing up the Damage.

Cytogenet Genome Res 2021 Sep 6:1-24. Epub 2021 Sep 6.

Department of Environmental & Radiological Health Sciences, Colorado State University, Fort Collins, Colorado, USA.

For long-term survival and evolution, all organisms have depended on a delicate balance between processes involved in maintaining stability of their genomes and opposing processes that lead toward destabilization. At the level of mammalian somatic cells in renewal tissues, events or conditions that can tip this balance toward instability have attracted special interest in connection with carcinogenesis. Mutations affecting DNA (and its subsequent repair) would, of course, be a major consideration here. Read More

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September 2021

[Advance of research on Phelan-McDermid syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):917-920

The First School of Clinical Medicine, Lanzhou University, Lanzhou, Gansu 730000, China.

Phelan-McDermid syndrome (PMS)(OMIM#606232) is a rare genetic disorder caused by a deletion of the distal long arm of chromosome 22q13 involving a variety of clinical features with considerably heterogeneous degrees of severity. This syndrome is characterized by global developmental delay, intellectual disability, hypotonia, absent or severely delayed speech, minor dysmorphic features and autism spectrum disorder. PMS is easy to be misdiagnosed due to the lack of specific clinical manifestations. Read More

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September 2021

[Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):895-899

Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450046, China.

Objective: To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women.

Methods: The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared.

Results: Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4. Read More

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September 2021

[Prenatal ultrasonic characteristics and genetic analysis of fetuses with chromosome 22q11 microdeletion syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):853-856

Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian 350001, China.

Objective: To analyze the prenatal ultrasonic characteristics and genetic features of 14 fetuses with chromosome 22q11 microdeletion syndrome (22q11DS).

Methods: 4989 fetuses were analyzed by using single nucleotide polymorphism array (SNP array) in the Fujian Maternal and Child Health Hospital from November 2016 to November 2019.

Results: SNP array showed that 11 fetuses had classic 3 Mb microdeletion in 22q11 region, one fetus had 2. Read More

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September 2021

[Application of mapping allele with resolved carrier status technique for preimplantation genetic testing in carriers with balanced chromosomal translocations].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2021 Sep;38(9):845-848

Department of Obstetrics & Gynecology, Center of Reproductive Medicine, Fuzong Clinical College of Fujian Medical University (900th Hospital of the Joint Logistics Team)/ Dongfang Hospital Affiliated to Xiamen University (900th Hospital of the Joint Logistics Team), Fuzhou, Fujian 350025, China.

Objective: To assess the application value of mapping allele with resolved carrier status (MaReCs) technique for preimplantation genetic testing (PGT).

Methods: The characteristics of MaReCs for PGT and outcome of patients were retrospectively analyzed.

Results: Compared with those who could not use the technique, carriers who have used the MaReCs technique were younger, had significantly higher level of anti-Mullerian hormone, more antral follicles, occytes, mature occytes, biopsied embryos and euploid embryos, and lower risks for de novo chromosomal abnormality (P<0. Read More

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September 2021

Bio-Efficacy of Two Algae against , Physiological and Cytogenetic Effects on .

Pak J Biol Sci 2021 Jan;24(5):618-628

<b>Background and Objective:</b> The bean seed beetle <i>Bruchidius incarnatus</i> is a major insect pest for stored grains that causes great economic damage. The investigated research aimed to evaluate the efficacy of two species of algae: <i>Fucus vesiculosus </i>and <i>Spirulina platensis </i>as natural alternative pesticides against <i>Bruchidius incarnatus</i> stages. <b>Materials and Methods:</b> The efficacy of two tested algae with amounts of 0. Read More

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January 2021