Cargando…

A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report

BACKGROUND: A patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to have a catastrophic cytogenetic event that manifested as a treatment-refractory aggressive form of disease, which lead to patient demise within one...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sasi, Ramakrishnan, Senft, Jamie, Spruill, Michelle, Barua, Subit, Dougaparsad, Sam, Vos, Jeffrey A., Perrotta, Peter L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9727891/ https://www.ncbi.nlm.nih.gov/pubmed/36474285 http://dx.doi.org/10.1186/s13039-022-00630-0

Ejemplares similares

Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report
por: Sasi, Ramakrishnan, et al.
Publicado: (2020)

Amplicon rearrangements during the extrachromosomal and intrachromosomal amplification process in a glioma
por: Vogt, Nicolas, et al.
Publicado: (2014)

Intrachromosomal Rearrangements in Rodents from the Perspective of Comparative Region-Specific Painting
por: Romanenko, Svetlana A., et al.
Publicado: (2017)

Chromosome Evolution in the Free-Living Flatworms: First Evidence of Intrachromosomal Rearrangements in Karyotype Evolution of Macrostomum lignano (Platyhelminthes, Macrostomida)
por: Zadesenets, Kira S., et al.
Publicado: (2017)

Chromosomal Location Determines the Rate of Intrachromosomal Homologous Recombination in Salmonella
por: Garmendia, Eva, et al.
Publicado: (2021)

Molecular Cytogenetic Characterization of Multiple Intrachromosomal Rearrangements in Two Representatives of the Genus Turdus (Turdidae, Passeriformes)
por: Kretschmer, Rafael, et al.
Publicado: (2014)

Intrachromosomal karyotype asymmetry in Orchidaceae
por: Medeiros-Neto, Enoque, et al.
Publicado: (2017)

Infantile Metachromatic Leukodystrophy (MLD): A Rare Case
por: Gajbhiye, Varsha, et al.
Publicado: (2022)

New genetic variants of TET2 and ASXL1 identified by next generation sequencing and pyrosequencing in a patient with MDS-RS-MLD and secondary acute myeloid leukemia
por: Adamska, Monika Małgorzata, et al.
Publicado: (2021)

Dynamic clonal progression in xenografts of acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21
por: Sinclair, Paul. B., et al.
Publicado: (2018)

Chromosome Folding Promotes Intrachromosomal Aberrations under Radiation- and Nuclease-Induced DNA Breakage
por: Eidelman, Yuri, et al.
Publicado: (2021)

Intrachromosomal Amplification of Chromosome 21 in Childhood Acute Lymphoblastic Leukemia: Study of 3 Cases
por: Mroczkowska, Aleksandra, et al.
Publicado: (2021)

Regional perturbation of gene transcription is associated with intrachromosomal rearrangements and gene fusion transcripts in high grade ovarian cancer
por: Krzyzanowski, Paul M., et al.
Publicado: (2019)

Study on Porosity in Zinc Oxide Ultrathin Films from Three-Step MLD Zn-Hybrid Polymers
por: Berger, Richard, et al.
Publicado: (2021)

Brain MRI and biological diagnosis in five Tunisians MLD patients
por: Barboura, Ilhem, et al.
Publicado: (2012)

Phosphorus monolayer doping (MLD) of silicon on insulator (SOI) substrates
por: Kennedy, Noel, et al.
Publicado: (2018)

A SNP based linkage map of the turkey genome reveals multiple intrachromosomal rearrangements between the Turkey and Chicken genomes
por: Aslam, Muhammad L, et al.
Publicado: (2010)

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes
por: Al-Kurbi, Alya A., et al.
Publicado: (2023)

<mds_ies_db>: a database of ciliate genome rearrangements
por: Burns, Jonathan, et al.
Publicado: (2016)

Diagnosis of intrachromosomal amplification of chromosome 21 (iAMP21) by molecular cytogenetics in pediatric acute lymphoblastic leukemia
por: Duployez, Nicolas, et al.
Publicado: (2015)

Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
por: Kim, Jieun, et al.
Publicado: (2016)

The Effect of Lysozyme on the Production of Tetanus Toxin. II. Mouse M.L.D.
por: Stone, Joseph L.
Publicado: (1953)

Electrochemically Active In Situ Crystalline Lithium-Organic Thin Films by ALD/MLD
por: Multia, Jenna, et al.
Publicado: (2020)

MLD: An Intelligent Memory Leak Detection Scheme Based on Defect Modes in Software
por: Yuan, Ling, et al.
Publicado: (2022)

Implications of intrachromosomal amplification of chromosome 21 on outcome in pediatric acute lymphoblastic leukemia: Does it affect our patients too?
por: Al-Sweedan, Suleimman, et al.
Publicado: (2019)

Nonmutagenic carcinogens induce intrachromosomal recombination in dividing yeast cells.
por: Schiestl, R H
Publicado: (1993)

Intrachromosomal amplification 21: A driver of acute myeloid leukemia?
por: Assaf, Nada, et al.
Publicado: (2023)

An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD)
por: Perkins, Kelly J, et al.
Publicado: (2005)

IT ricerca, parte in Italia 'cervello' da 10mila mld operazioni al secondo
Publicado: (2009)

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
por: Hettiarachchi, D., et al.
Publicado: (2019)

Benzenedisulfonic Acid as an ALD/MLD Building Block for Crystalline Metal‐Organic Thin Films
por: Heiska, Juho, et al.
Publicado: (2021)

Oxidative MLD of Conductive PEDOT Thin Films with EDOT and ReCl(5) as Precursors
por: Ghafourisaleh, Saba, et al.
Publicado: (2021)

Complex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex
por: Rincic, Martina, et al.
Publicado: (2016)

Intrachromosomal amplification of chromosome 21 in Korean pediatric patients with B-cell precursor acute lymphoblastic leukemia in a single institution
por: Yang, Mina, et al.
Publicado: (2017)

Mechanism of DNA resection during intrachromosomal recombination and immunoglobulin class switching
por: Bothmer, Anne, et al.
Publicado: (2013)

Pluripotency exit is guided by the Peln1-mediated disruption of intrachromosomal architecture
por: Wang, Yichen, et al.
Publicado: (2022)

DNA vaccine containing the mycobacterial hsp65 gene prevented insulitis in MLD-STZ diabetes
por: Santos, Rubens R, et al.
Publicado: (2009)

IL-33 Prevents MLD-STZ Induction of Diabetes and Attenuate Insulitis in Prediabetic NOD Mice
por: Pavlovic, Sladjana, et al.
Publicado: (2018)

Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)
por: Hettiarachchi, D., et al.
Publicado: (2020)

Male and female meiotic behaviour of an intrachromosomal insertion determined by preimplantation genetic diagnosis
por: Xanthopoulou, Leoni, et al.
Publicado: (2010)

Cannot write session to /tmp/vufind_sessions/sess_mktjtkih4ngrhkjbb53b22j8ue