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Dang Daniel N DN *Department of Pathology, Parkland Health and Hospital System, Children's Medical Center ‡Department of Pediatrics, Division of Hematology-Oncology, UT Southwestern Medical Center, Dallas, TX †Department of Pediatrics, Division of Hematology/Oncology, Children's Hospital & Research Center Oakland, Oakland, - - 2014
Acute myeloid leukemia is classified based upon recurrent cytogenetic abnormalities. The t(15;17)(q24.1;q21.1) abnormality is found in 5% to 8% of de novo acute myeloid leukemia and is diagnostic of acute promyelocytic leukemia (APL). The translocation results in fusion of the retinoic acid receptor-α (RARA) gene at 17q21.1 and the promyelocytic ...
Kelemen Katalin K Department of Laboratory Medicine and Pathology, Mayo Clinic, Phoenix, AZ. Electronic address: - - 2014
The acquisition of the Philadelphia chromosome (Ph) as a secondary change during the course of hematopoietic malignancies is rare and is associated with poor prognosis. Few cases of secondary Ph have been reported after hematopoietic cell transplantation (HCT). A secondary Ph at relapse is of clinical importance because it provides ...
Li Xue X Department of Pediatrics, Qilu Hospital, Shandong University, Shandong, Ji'nan, P.R. - - 2014
The occurrence of leukemia in twins is rare but has a crucial implication in the genetic research of leukemia. This report presents 2 pairs of monozygotic twins with precursor B-cell acute lymphoblastic leukemia. Mixed lineage leukemia (MLL)-AF4 fusion genes were found in the twin sisters. This study is the first ...
Lo-Coco Francesco F Department of Biomedicine and Prevention, University of Rome 'Tor Vergata' and Fondazione Santa Lucia, Rome, Italy. Electronic address: - - 2014
Acute promyelocytic leukemia (APL) is a distinct subset of acute myeloid leukemia (AML) associated with peculiar biologic and clinical features and requiring specific management. At the genetic level, APL is featured by a unique chromosome translocation t(15;17) which results in the PML-RARα gene fusion and chimeric protein. APL is the ...
Krishnan S S Department of Haematology, Singapore General Hospital, Singapore. ; Duke-NUS Graduate Medical School, - - 2014
Bilineal blast transformation of myeloid and T lymphoid type is a rare event in chronic myeloid leukemia. Here, we report a case in which an adult presented with high white cell counts and lymphadenopathy. Bone marrow studies confirmed the presence of 9 and 22 chromosomal translocation, and a diagnosis of ...
Lim Ji-Hun JH Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, - - 2014
Anaplastic lymphoma receptor tyrosine kinase (ALK) is located on chromosome 2p23; the chromosomal rearrangements of this gene are common genetic alterations, resulting in the creation of multiple fusion genes involved in tumorigenesis. However, the presence of an ALK fusion in myeloid malignancies is extremely rare. We report a case of ...
Matsushita Hiroaki H Sanford Applied Biosciences L.L.C., Sioux Falls, South Dakota, United States of America; Hematech, Inc., Sioux Falls, South Dakota, United States of - - 2014
Towards the goal of producing fully human polyclonal antibodies (hpAbs or hIgGs) in transchromosomic (Tc) cattle, we previously reported that Tc cattle carrying a human artificial chromosome (HAC) comprising the entire unrearranged human immunoglobulin (Ig) heavy-chain (hIGH), kappa-chain (hIGK), and lambda-chain (hIGL) germline loci produced physiological levels of hIgGs when ...
Anelli Luisa - - 2013
About 50% of acute myeloid leukemia (AML) patients show the occurrence of non-random chromosome rearrangements. Most of the recurrent karyotypic rearrangements in AML have been defined as distinct disease entities in the 2008 World Health Organization (WHO) classification. In this paper we report an AML case showing a novel t(4;16)(q25;q23.1) ...
Yan Jinsong - - 2013
Acute promyelocytic leukemia (APL), a distinct subtype of acute myelogenous leukemia, is characterized by PML/RARÉ‘ fusion gene, which is formed by a reciprocal chromosomal translocation of t(15:17) (q22;q21), in up to 98% of all APL patients. PML/RARÉ‘ fusion protein, the product of the aberrant fusion gene, has been known to ...
Van Wier Scott - - 2013
Multiple myeloma patients are mainly categorized into hyperdiploid or non- hyperdiploid myeloma based on the number of chromosomes found in the tumor clone. Among non-hyperdiploid patients the hypodiploid subtype has the most aggressive clinical phenotype, but the genetic differences between groups are not completely defined. In order to better understand ...
Meyer C - - 2013
Chromosomal rearrangements of the human MLL gene are associated with high-risk infant, pediatric, adult and therapy-induced acute leukemias. We used long distance inverse PCR (LDI-PCR) to characterize the chromosomal rearrangement of individual acute leukemia patients. We present data of the molecular characterization of 1590 MLL-rearranged biopsy samples obtained from acute ...
Moghadam Mohammad Heydarian - - 2013
Homogeneously staining regions (HSR) or double minute chromosomes (dmin) are autonomously replicating extra-chromosomal elements that are frequently associated with gene amplification in a variety of cancers. The diagnosis of leukemia patients was based on characterization of the leukemic cells obtained from bone marrow cytogenetics. This study report two cases, one ...
Weinhold Niels - - 2013
A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genome-wide association studies of multiple myeloma including a total of 1,661 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(11;14)(q13;q32) translocation in which CCND1 is placed under the control ...
Chesi Marta M Mayo Clinic Arizona, 13400 E Shea Blvd, Scottsdale, AZ 85259, - - 2013
Multiple myeloma is divided into two distinct genetic subtypes based on chromosome content. Hyperdiploid myeloma is characterized by multiple trisomies of chromosomes 3, 5, 7, 9 11, 15, 19 and 21, and lacks recurrent immunoglobulin gene translocations. Non-hyperdiploid myeloma in contrast is characterized by chromosome translocations t(4;14), t(14;16), t(14;20), t(6;14) ...
Saito Makoto M Department of Internal Medicine and Hematology, Aiiku Hospital , - - 2013
Biphenotypic acute leukemias (BAL) account for less than 4% of all cases of acute leukemia. Philadelphia chromosome and 11q23 rearrangement are the most frequently found cytogenetic abnormalities. Since t(15;17) is almost always associated with acute promyelocytic leukemia, t(15;17) in BAL cases is extremely uncommon. We report here a rare and ...
Dennis M M Christie Hospital, Manchester, United - - 2013
Patients with high risk myelodysplasia (HR-MDS) and acute myeloid leukaemia (AML) with chromosomal changes involving deletion of the long arm of chromosome 5 (del5q), especially with complex karyotype, rarely have a durable response to combination chemotherapy. In the subgroup with monosomal karyotype there are no long term survivors (Fang et ...
Appachu Sandhya S Department of Medical Oncology, Kidwai Memorial Institute of Oncology, Banglore, Karnataka 560029, - - 2013
Acute promyelocytic leukaemia (APML) is a biologically and clinically distinct variant of AML, currently classified as acute myeloid leukaemia with recurrent cytogenetic anomalies t(15;17) (q22;q21), promyelocytic leukaemia-retinoic acid receptor alpha, diagnosis regardless of blast count in the World Health Organization classification system. It is one of the curable malignancies, has ...
Richard Manon M S MM UMR-CNRS 8618, Saclay Plant Sciences, Institut de Biologie des Plantes, Université Paris Sud Orsay Cedex, - - 2013
Subtelomeric regions in eukaryotic organisms are known for harboring species-specific tandemly repeated satellite sequences. However, studies on the molecular organization and evolution of subtelomeric repeats are scarce, especially in plants. Khipu is a satellite DNA of 528-bp repeat unit, specific of the Phaseolus genus, with a subtelomeric distribution in common ...
Wawrzyniak Ewa - - 2012
A monosomal karyotype (MK) was identified by banding techniques (BT) in acute myeloid leukemia (AML). However, BT may be insufficient to determine the actual loss of a complete chromosome, especially in complex karyotypes. We have investigated the effect of monosomy type, total (MK-t) and partial (MK-p), reevaluated by FISH, on ...
Russo Andrea - - 2012
Cytogenetic analysis has transformed the management of uveal melanoma in recent years and allows categorization of such tumors into low-grade tumors with a favorable prognosis and high-grade tumors that metastasize with a fatal outcome. The authors report the case of a 73-year-old man who presented with recurrent melanoma in his ...
Abe Akihiro - - 2012
The RUNX1 locus, which encodes a transcription factor that is essential for normal hematopoiesis, is a frequent location of chromosomal rearrangements in human hematological malignancies. We report the case of a 78-year-old man with acute myeloid leukemia (AML), M1 subtype (French-American-British classification), with a t(11;21)(p14;q22). Fluorescence in situ hybridization showed ...
Meng Weihua - - 2012
PURPOSE. Myopia is a complex trait affected by both genetic and environmental factors. High myopia is associated with increased risk of sight-threatening eye disorders such as retinal detachment. The purpose of this genome-wide association study was to identify susceptibility genes contributing to high myopia in the French population. METHODS. High ...
Huh Jungwon - - 2012
The purpose of this study was to evaluate the detection rate of chromosomal rearrangements in leukemia using single nucleotide polymorphism array (SNP-A) in combination with metaphase cytogenetics (MC), with the aim of proposing a practical approach for clinical karyotyping applications of SNP-A. The Genome-Wide Human SNP Array 6.0 (Affymetrix, Santa ...
Cannon-Albright Lisa A - - 2013
Three predisposition genes have been identified for cutaneous malignant melanoma (CMM), but they account for only ∼25% of melanoma clusters/pedigrees. Linkage analyses of melanoma pedigrees from many countries have failed to identify significant linkage evidence for the remaining predisposition genes that must exist. The Utah linkage analysis approach of using ...
Thienelt C D - - 2012
Chronic myeloid leukemia (CML) is an uncommon malignancy, the treatment and prognosis of which have dramatically shifted over the last decade. Characterized by a translocation between chromosomes 9 and 22, known as the Philadelphia chromosome, small-molecule tyrosine kinase inhibitors (TKIs) targeted against the oncogenic BCR-ABL fusion protein have changed this ...
Sandhya Devi G - - 2012
Acute myeloid leukemia with maturation (AML-M2) is associated with the 8;21 translocation. For the first time in an adult patient with AML-M2, a novel unbalanced translocation involving the short arm of chromosome 11 and long arm of chromosome18 with new breakpoints is presented. CD82 on band 11p11.2 and GATA 6 ...
Uccella Silvia - - 2012
Extranodal NK/T lymphoma, nasal type, is an uncommon neoplasm that occurs with a higher prevalence among Asian populations and Native American populations of Central and Southern America. In Western countries, this tumor is extremely rare, accounting for less than 1.5% of all non-Hodgkin lymphomas. Cytogenetic analyses have been performed only ...
Tanaka Toshiaki - - 2012
Mucosa-associated lymphoid tissue (MALT) lymphoma is a type of an extranodal marginal zone B-cell lymphoma that accounts for about 5% to 8% of all B-cell lymphomas. It is rare for a recurrent oral MALT lymphoma to have tetraploidy with a double t(11;18) chromosomal abnormality, however. A 66-year-old Japanese woman with ...
Li Lu - - 2012
More than 50% of adult patients with acute myeloid leukemia (AML) carry chromosome abnormalities, like t(8;21)(q22;q22), t(15;17), t(8;21)inv(16) or t(16;16). t(10;17) translocation was very rare in AML. There are only 10 such cases reported in the literature. Here, we describe a case of acute myeloid leukemia with t(10;17)(p13;q12) chromosome translocation, ...
Herrera Victoria L M - - 2012
Essential hypertension affects 75% of post-menopausal women in the United States causing greater cardiovascular complications compared with age-matched men and pre-menopausal women. Hormone replacement and current anti-hypertensive therapies do not correct this post-menopausal increased risk suggesting a distinct pathogenic framework. We investigated the hypothesis that distinct genetic determinants might underlie ...
Jackson-Cook Colleen - - 2011
Chromosomal imbalances can result from numerical or structural anomalies. Numerical chromosomal abnormalities are often referred to as aneuploid conditions. This article focuses on the occurrence of constitutional and acquired autosomal aneuploidy in humans. Topics covered include frequency, mosaicism, phenotypic findings, and etiology. The article concludes with a consideration of anticipated ...
Lattao Ramona - - 2011
We generated FM7a and CyO balancer chromosomes bearing a Tubby1 (Tb1) dominant transgene. Flies heterozygous for these FM7a and CyO derivatives exhibit a phenotype undistinguishable from that elicited by the Tb1 mutation associated with the TM6B balancer. We tested two of these Tb-bearing balancers (FM7-TbA and CyO-TbA) for more than ...
Su Pen-Hua - - 2011
We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13.3) resulting in partial monosomy 22q and trisomy 15q. The combination of deletion 22q and duplication ...
Khan Arif O - - 2011
To perform linkage analysis on an inbred family with members who exhibit different phenotypic forms of childhood strabismus. Prospective clinical examination and linkage analysis. three of the ten siblings and their cousin each had a different phenotypic form of childhood strabismus: infantile esotropia with convergence excess, esotropia associated with anisometropic ...
Bushko Renata G - - 2009
This paper reports on the most important recent technological event and its significance to the human race: chromallocyte designed by Robert Freitas--a nanorobot that would be capable of replacing chromosomes on a cell by cell basis throughout the body in vivo. The significance of chromallocyte comes from its ability to ...
Purohit Vimlesh - - 2003
Lipomas of the small intestine are usually found incidentally; symptoms occur in less than one-third of affected patients, especially when lipomas are more than 2 cm in size. We report a 32-year-old man in whom intestinal lipomatosis resulted in colo-colic intussusception. These symptoms disappeared following operative resection of about 60 ...
Thiel Christian - - 2002
Deficiency of the endoplasmic reticulum enzyme dolichyl-phosphate mannose (Dol-P-Man):Man(7)GlcNAc(2)-PP-dolichyl mannosyltransferase leads to a new type of congenital disorder of glycosylation, designated type Ig. The patient 1 presented with a multisystemic disorder with microcephaly, developmental retardation, convulsions and dysmorphic signs. The isoelectric focusing pattern of the patient's serum transferrin showed the ...
Waters C H - - 1993
Lubag (X-linked dystonia-parkinsonism) has been considered a sex-linked recessive trait and has been mapped to the pericentromeric region of the X chromosome. We studied a 54-year-old man with lubag and two of his female first cousins. Genetic typing was carried out using X chromosome markers. Fluorodopa PET was performed on ...
Charrouf Z - - 1992
Five new oleanane saponins named arganine A, B, D, E and F and two known saponins: arganine C and mi-saponin A were isolated from the kernel of Argania spinosa. The structures of these saponins were elucidated by using 1H NMR, 1H-1H COSY NMR, 13C NMR, FAB mass spectrometry and chemical ...
Fernández-Calvín B - - 1991
Meiotic associations of different wheat-Aegilops variabilis and wheat-Ae. kotschyi hybrid combinations with low and high homoeologous pairing were analyzed at metaphase I. Five types of pairing involving wheat and Aegilops genomes were identified by using C-banding. A genotype that seems to promote homoeologous pairing has been found in Ae. variabilis ...
Montresor E - - 1990
A 34-year-old man and a 71-year-old woman underwent radical removal of mediastinally sited chondrosarcoma, presumably originating in the periosteum of the vertebral body. The man (with mesenchymal chondrosarcoma) died of remote metastasis 6 years postoperatively. The woman (poorly differentiated chondrosarcoma, grade 2-3) is still alive 2 years after the operation.
Olsson P A - - 1985
This paper describes the complex psychotherapy of a young man involved with white witchcraft and a coven of white witches during crucial phases of therapeutically activated processes of separation-individuation. Psychoanalytic concepts are applied toward a theoretical and technical understanding of such a unique therapy and of white witchcraft in general.
Yunis J J - - 1982
Man, gorilla, and chimpanzee likely shared an ancestor in whom the fine genetic organization of chromosomes was similar to that of present man. A comparative analysis of high-resolution chromosomes from orangutan, gorilla, chimpanzee, and man suggests that 18 or 23 pairs of chromosomes of modern man are virtually identical to ...
Soares M B - - 1982
A simple procedure for extracting a lectin from the seeds of the jackfruit, Artocarpus integrifolia, is described. The extracts had an average protein concentration of 13.3 mg/ml, and were strongly erythroagglutinating with a 10(6) titre. Erythroagglutination was shown to be non-specific for A1-B-0 erythrocytes. Lymphoblastic transformation and mitogenic stimulation occurred ...
Hayman D L - - 1982
The relative DNA contents of individual chromosomes of Sminthopsis crassicaudata (Marsupialia) have been measured by DNA cytophotometry. Measurements of the relative nuclear DNA contents of man and Sminthopsis have been made and show that the DNA content of the marsupial X chromosome is substantially less than that of the X ...
Wu X Z - - 1981
This paper deals with a well-preserved human cranium of late Middle Pleistocene, belonging to a young male individual. It has many characters identical to those of early Homo sapiens or intermediate between Homo erectus and modern man. It possesses also some features similar to those of modern man, and close ...
Kuhl P - - 1980
Genetic evidence for a dimeric structure of dihydropteridine reductase in man and in the fish species "Cheirodon axelrodi" and "Salmo irideus" is presented. A single locus in man and two loci in the fishes examined encode this enzyme. Zymograms revealed two alleles for the locus in man and two alleles ...
Dutrillaux B - - 1979
The karyotype of a platyrrhine, Cebus capucinus, is compared with that of man and other catarrhines. It was found that a large degree of analogy of chromosome banding exists among the different species. A common origin for the platyrrhines and the catarrhines can thus be deduced. Furthermore, it becomes possible ...
Jayawardena A N - - 1979
CBA/N mice carry an X-linked recessive defect expressed in cells of the B cell lineage. The major deficiency in these mice is an almost complete inability to respond to certain thymus-independent antigens, such as pneumococcal polysaccharide type III (S III). We have examined the responses of mice carrying the CBA/N ...
Leonard A - - 1977
The yield of chromosomal aberrations induced by exposure to X-irradiation in vitro was studied in the lymphocytes of the chimpanzee (Pan troglodytes), a hominoid ape phylogenically and chromosomally closely related to man. In agreement with the similarity of the chromosome characteristics, no significant difference was observed between man and chimpanzee ...
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