• A case of severe mental and developmental retardation associated with 14q terminal monosomy/5q terminal trisomy
• A cryptic t(5;11)(q35;p15.5) in 2 children with acute myeloid leukemia with apparently normal karyotypes, identified by a multiplex fluorescence in situ hybridization telomere assay
• A family with an inverted tandem duplication 5q22.1q23.2
• A pediatric BAL case with double Ph chromosomes and trisomy 5
• A rare unbalanced translocation (trisomy 5q33.3-qter, monosomy 13q34-qter) results in growth hormone deficiency and brain anomalies
• Advances in the 5q- syndrome
• An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease
• An unusual combination of trisomy 21 and partial trisomy 5q
• Association of schizophrenia and partial trisomy of chromosome 5p. A case report
• Autoimmune disorders in two patients with myelodysplastic syndrome and 5q deletion
• Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
• Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q
• Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods
• Chromosomal aberrations characteristic for sAML/sMDS are not detectable by random screening using FISH in peripheral blood-derived grafts used for autologous transplantation
• Chromosomal aberrations in myelodysplastic syndrome
• Chromosomal abnormalities in acute myeloid leukaemias
• Chromosomal gains and losses are uncommon in hairy cell leukemia: a study based on comparative genomic hybridization and interphase fluorescence in situ hybridization
• Chromosome 5 derived small supernumerary marker: towards a genotype/phenotype correlation of proximal chromosome 5 imbalances
• Clonal cytogenetic abnormalities in Hodgkin's disease
• Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review
• Conventional and molecular cytogenetic features of myelodysplastic syndrome in China
• Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis
• Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy
• Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation
• Cryptic translocation t(5;18) in familial mental retardation
• Current treatment options: impact of cytogenetics on the course of myelodysplasia
• Cytogenetic analysis in patients with myelodysplastic syndrome
• Cytogenetic and genetic pathways in therapy-related acute myeloid leukemia
• Cytogenetic biclonality in malignant hematologic disorders
• Cytogenetic findings in 179 patients with myelodysplastic syndromes
• Cytogenetic profile of minimally differentiated (FAB M0) acute myeloid leukemia: correlation with clinicobiologic findings
• Cytogenetic profile predicts prognosis of patients with clear cell renal cell carcinoma
• Cytogenetic study in therapy-related myelodysplastic syndromes (t-MDS) and acute non-lymphocytic leukaemia (t-ANLL)
• Deletion mapping of DNA markers to a region of chromosome 5 that cosegregates with schizophrenia
• Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells
• Detection of common chromosome abnormalities in myelodysplastic syndrome with a panel fluorescence in situ hybridization
• Detection of partial cDNA sequences differentially expressed in patients with myelodysplasia
• Developmental retardation due to paternal 5q/11q translocation in a Chinese infant: clinical, chromosomal and microarray characterization
• Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
• Disorders of Ribosomal Proteins and Related Hematologic Diseases -Review
• Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting
• Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q
• Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
• Duplication of 5q15-q23.2: case report and literature review
• Effects of L-leucine in 5q- syndrome and other RPS14-deficient erythroblasts
• Establishment of Primary Adult MDS Nested Case-Control Study Cohort and Study of Risk Factors Associated with MDS Evolution to Leukemia
• Familial dup(5)(q15q21) associated with normal and abnormal phenotypes
• Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum
• Family with partial monosomy 10p and trisomy 10p
• Fas-mediated apoptosis is important in regulating cell replication and death in trisomy 8 hematopoietic cells but not in cells with other cytogenetic abnormalities
• FISH and SNP-A karyotyping in myelodysplastic syndromes: improving cytogenetic detection of del(5q), monosomy 7, del(7q), trisomy 8 and del(20q)
• Gain of an isochromosome 5p: a new recurrent chromosome abnormality in acute monoblastic leukemia
• Genetic abnormalities and pathophysiology of MDS
• Genetic lesions in preleukemia
• Genomic gains and losses influence expression levels of genes located within the affected regions: a study on acute myeloid leukemias with trisomy 8, 11, or 13, monosomy 7, or deletion 5q
• Haploinsufficiency of ribosomal proteins and p53 activation in anemia: Diamond-Blackfan anemia and the 5q- syndrome
• Histopathological, cytogenetic, and molecular characterization of renal cortical tumors
• Inflammatory arthropathies in children with chromosomal abnormalities
• Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion
• Is 5q deletion in de novo Acute Myelogenous Leukemia (AML) with excess blasts a surrogate marker for the cryptic t(7;21)(p22;q22)? A case report and review of literature
• Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders
• Long-term outcome of anemic lower-risk myelodysplastic syndromes without 5q deletion refractory to or relapsing after erythropoiesis-stimulating agents
• MDR-1 expression and deletions of chromosomes 7 and 5(Q) separately indicate adverse prognosis in AML
• MN1-ETV6 fusion gene arising from MDS with 5q-
• Molecular cloning, chromosomal mapping, and characterization of the human cardiac-specific homeobox gene hCsx
• Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q
• Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia
• Molecular genetics and diagnosis of renal cell tumors
• Multiplex fluorescence in situ hybridization in identifying chromosome involvement of complex karyotypes in de novo myelodysplastic syndromes and acute myeloid leukemia
• Myelodysplastic syndromes (MDS). Aspects of hematopathologic diagnosis
• Occurrence of acute myeloid leukemia in hydroxyurea-treated sickle cell disease patient
• Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay
• Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5
• Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent
• Partial trisomy of distal 5q and partial monosomy of Xp as a result of mating between two translocation carriers: a female with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)--a case report and a family study
• Population-based demographic study of karyotypes in 1709 patients with adult acute myeloid leukemia
• Predominance of trisomy 1q in myelodysplastic syndromes in Korea: is there an ethnic difference? A 3-year multi-center study
• Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy
• Primary acquired sideroblastic anemia, thrombocytosis, and trisomy 8
• Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation
• Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
• Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism
• Pure partial trisomy 5q33-->5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation
• Quantitative evaluation of treatment response to lenalidomide by applying fluorescence in situ hybridization for peripheral blood granulocytes in a patient with 5q- syndrome
• Recent research advances in 5q- syndrome
• Recurrent Abnormal Clones in Myelodysplastic Syndrome Marrow Originate from Cells at a Pluripotent Stem Level and Maintain Their Early Differentiation Potency
• Role of chromosome 5 in immortalization and tumorigenesis of human keratinocytes
• Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion
• Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism
• Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication
• Systematic screening at diagnosis of -5/del(5)(q31), -7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high-risk myelodysplastic syndrome patients: concordances and discrepancies with conv
• The 5q(-) syndrome. Report of 2 cases
• The benzene metabolites hydroquinone and catechol act in synergy to induce dose-dependent hypoploidy and -5q31 in a human cell line
• The incidence of myelodysplastic syndromes in Western Greece is increasing
• The molecular pathogenesis of the myelodysplastic syndromes
• The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
• Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations
• Trisomy 4 and ring chromosome in a patient with acute myelomonocytic leukemia
• Trisomy 8 and an unbalanced t(5;17)(q11;p11) characterize two karyotypically independent clones in a case of idiopathic myelofibrosis evolving to acute nonlymphoid leukemia
• Why do we not have more drugs approved for MDS? A critical viewpoint on novel drug development in MDS