Chromosome Deletion

• 

  Subject Areas on Research

  • 1p36 is a preferential target of chromosome 1 deletions in astrocytic tumours and homozygously deleted in a subset of glioblastomas. 
  • 5' flanking DNA sequences direct cell-specific expression of rat tyrosine hydroxylase. 
  • 9p- in a girl with acute lymphocytic leukemia and sickle cell disease. 
  • A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia. 
  • A 90 kb DNA deletion associated with neurofibromatosis type 1. 
  • A DNA deletion associated with multiple impaired transcripts in the visual mutant TRP. 
  • A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. 
  • A further case of choanal atresia in the deletion (9p) syndrome. 
  • A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. 
  • A new phase in the study of human inherited eye diseases. 
  • A pathobiological role of the insulin receptor in chronic lymphocytic leukemia. 
  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. 
  • A truncated form of fibroblast growth factor receptor 1 inhibits signal transduction by multiple types of fibroblast growth factor receptor. 
  • ARHI is the center of allelic deletion on chromosome 1p31 in ovarian and breast cancers. 
  • AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. 
  • Abnormalities of the corpus callosum in nonpsychotic children with chromosome 22q11 deletion syndrome. 
  • Acquisition and processing of a conditional dicentric chromosome in Saccharomyces cerevisiae. 
  • Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements. 
  • Adult congenital heart disease: right ventricular outflow tract lesions. 
  • Allelic loss at the tuberous sclerosis 2 locus in spontaneous tumors in the Eker rat. 
  • Alteration and restoration of K+ channel function by deletions at the N- and C-termini. 
  • Alterations of the P53 gene are associated with the progression of a human prostate carcinoma. 
  • Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. 
  • Analysis of trans activation by human papillomavirus type 16 E7 and adenovirus 12S E1A suggests a common mechanism. 
  • Angelman syndrome: are the estimates too low? 
  • Array CGH profiling of favourable histology Wilms tumours reveals novel gains and losses associated with relapse. 
  • Assessment of parental disclosure of a 22q11.2 deletion syndrome diagnosis and implications for clinicians. 
  • Association of genomic subtypes of lower-grade gliomas with shape features automatically extracted by a deep learning algorithm. 
  • Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins. 
  • Baculovirus expression of functional P210 BCR-ABL oncogene product. 
  • CREBBP and STAT6 co-mutation and 16p13 and 1p36 loss define the t(14;18)-negative diffuse variant of follicular lymphoma. 
  • CTD kinase large subunit is encoded by CTK1, a gene required for normal growth of Saccharomyces cerevisiae. 
  • Calmodulin activation of target enzymes. Consequences of deletions in the central helix. 
  • Case of chronic eosinophilic leukemia with deletion of chromosome 16 and hepatitis C. 
  • Characterization of a mutation in yeast causing nonrandom chromosome loss during mitosis. 
  • Choanal atresia in a patient with the deletion (9p) syndrome. 
  • Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. 
  • Chromosomal translocation in a human leukemic stem-cell line disrupts the T-cell antigen receptor delta-chain diversity region and results in a previously unreported fusion transcript. 
  • Chromosome 10 deletion mapping in human gliomas: a common deletion region in 10q25. 
  • Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study. 
  • Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. 
  • Clastogenicity of lead chromate particles in hamster and human cells. 
  • Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. 
  • Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. 
  • Clonality of lobular carcinoma in situ and synchronous invasive lobular carcinoma. 
  • Cloning and expression of the yeast plasma membrane ATPase in Escherichia coli. 
  • Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. 
  • Comparative genomic hybridization analysis of astrocytomas: prognostic and diagnostic implications. 
  • Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. 
  • Completeness of required site-specific factors for brain and CNS tumors in the Surveillance, Epidemiology and End Results (SEER) 18 database (2004-2012, varying). 
  • Comprehensive analysis of chromosome 1p deletions in neuroblastoma. 
  • Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis. 
  • Copy number variation is associated with gene expression change in archaea. 
  • Correlation of 1p-19q-defects in human gliomas with the light microscopic appearance of oligodendroglioma. 
  • Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. 
  • Deletion analysis of bacteriophage T4 tertiary origins. A promoter sequence is required for a rifampicin-resistant replication origin. 
  • Deletion analysis of recombinant human factor V. Evidence for a phosphatidylserine binding site in the second C-type domain. 
  • Deletion of Y chromosome sequences located outside the testis determining region can cause XY female sex reversal. 
  • Deletion of carboxy-terminal residues of murine granulocyte-macrophage colony-stimulating factor results in a loss of biologic activity and altered glycosylation. 
  • Deletion-mutant epidermal growth factor receptor in human gliomas: effects of type II mutation on receptor function. 
  • Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein. 
  • Detailed assessment of chromosome 22 aberrations in sporadic pheochromocytoma using array-CGH. 
  • Detailed molecular analysis of 1p36 in neuroblastoma. 
  • Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. 
  • Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. 
  • Development of a prognostic model for overall survival in multiple myeloma using the Connect® MM Patient Registry. 
  • Distal nephron renal tumors: microsatellite allelotype. 
  • Distinct patterns of 1p and 19q alterations identify subtypes of human gliomas that have different prognoses. 
  • Distinct regions of allelic loss on chromosome 4 in human primary bladder carcinoma. 
  • Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25. 
  • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. 
  • Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 
  • Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry. 
  • Duchenne muscular dystrophy: high frequency of deletions. 
  • Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome. 
  • Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. 
  • Evidence for coincident mutations in human lymphoblast clones selected for functional loss of a thymidine kinase gene. 
  • Evidence for positive and negative regulatory elements in the 5'-flanking sequence of the mouse sparc (osteonectin) gene. 
  • Expression of a constitutive form of calcium/calmodulin dependent protein kinase II leads to arrest of the cell cycle in G2. 
  • Expression of rRNA and tRNA genes in Escherichia coli: evidence for feedback regulation by products of rRNA operons. 
  • Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. 
  • Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22: report of a case. 
  • Familial inheritance of a DXS164 deletion mutation from a heterozygous female. 
  • Feasibility and preliminary efficacy data from a computerized cognitive intervention in children with chromosome 22q11.2 deletion syndrome. 
  • Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. 
  • Frequent loss of heterozygosity on chromosome arm 18q in squamous cell carcinomas. Identification of 2 regions of loss--18q11.1-q12.3 and 18q21.1-q23. 
  • Functional domains of the human vitamin D3 receptor regulate osteocalcin gene expression. 
  • Further clinical and molecular delineation of the 15q24 microdeletion syndrome. 
  • Generation and analysis of partially haploid cells with Cre-mediated chromosome deletion in the lymphoid system. 
  • Genetic analysis of a family with hereditary glomuvenous malformations. 
  • Genetic analysis of a meiotic recombination hotspot on chromosome III of Saccharomyces cerevisiae. 
  • Genetic and phenotypic characteristics of pleomorphic lobular carcinoma in situ of the breast. 
  • Genetic basis for p53 overexpression in human breast cancer. 
  • Genetic changes in human adrenocortical carcinomas. 
  • Genetic linkage of hyper-IgE syndrome to chromosome 4. 
  • Genomic Amplifications and Distal 6q Loss: Novel Markers for Poor Survival in High-risk Neuroblastoma Patients. 
  • Genomic and Functional Approaches to Understanding Cancer Aneuploidy. 
  • Genomic lesions associated with a different clinical outcome in diffuse large B-Cell lymphoma treated with R-CHOP-21. 
  • Genotype/phenotype correlations in two patients with 12q subtelomere deletions. 
  • Hereditary renal cell carcinoma in the rat associated with nonrandom loss of chromosomes 5 and 6. 
  • Hereditary spherocytosis associated with deletion of human erythrocyte ankyrin gene on chromosome 8. 
  • High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2. 
  • High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. 
  • Human centromere repositioning within euchromatin after partial chromosome deletion. 
  • Human vitamin D receptor mutations: identification of molecular defects in hypocalcemic vitamin D resistant rickets. 
  • Hypereosinophilic syndrome and hemimelia in a patient with chromosome 6p22.3 deletion. 
  • Identification and characterization of proximal 6q deletions in prostate cancer. 
  • Identification of a deletion in the adenosine deaminase gene in a child with severe combined immunodeficiency. 
  • Identification of an X-ray induced deletion mutant flanked by direct repeats. 
  • Impact of Genomic and Clinical Factors on Outcome of Children ≥18 Months of Age with Stage 3 Neuroblastoma with Unfavorable Histology and without MYCN Amplification: A Children's Oncology Group (COG) Report. 
  • Induction of a cellular enzyme for energy metabolism by transforming domains of adenovirus E1a. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Instability of rRNA operons in Bacillus subtilis. 
  • Instability of simple sequence DNA in Saccharomyces cerevisiae. 
  • Integrated genomic profiling of chronic lymphocytic leukemia identifies subtypes of deletion 13q14. 
  • Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. 
  • Loss of chromosome 13 in a case of soft tissue perineurioma. 
  • Loss of chromosomes 22 and 14 in the malignant progression of meningiomas. A comparative study of fluorescence in situ hybridization (FISH) and standard cytogenetic analysis. 
  • Loss of heterozygosity for 10q loci in human gliomas. 
  • M6P/IGF2 receptor: a candidate breast tumor suppressor gene. 
  • Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. 
  • Microsatellite analysis of childhood brain tumors. 
  • Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 
  • Molecular genetic aspects of oligodendrogliomas including analysis by comparative genomic hybridization. 
  • Mouse small eye results from mutations in a paired-like homeobox-containing gene. 
  • Myosin light chain kinase structure function analysis using bacterial expression. 
  • NF1-related locus on chromosome 15. 
  • Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. 
  • New findings in the chromosome 13 long-arm deletion syndrome and retinoblastoma. 
  • Oncogenes and anti-oncogenes in human central nervous system tumors. 
  • Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. 
  • Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. 
  • Precise localization of the FHIT gene to the common fragile site at 3p14.2 (FRA3B) and characterization of homozygous deletions within FRA3B that affect FHIT transcription in tumor cell lines. 
  • Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy. 
  • Prognostic implications of chromosome 17p deletions in human medulloblastomas. 
  • Prognostic relevance of 6q deletion in Waldenström's macroglobulinemia: a multicenter study. 
  • Progression of basal cell carcinoma through loss of chromosome 9q and inactivation of a single p53 allele. 
  • Radiation and chemotherapy for high-risk lower grade gliomas: Choosing between temozolomide and PCV. 
  • Rapid mapping of deletion and duplication mutations by the polymerase chain reaction. 
  • Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. 
  • Regulatory genes linked to the albino locus in the mouse confer competence for inducible expression on the structural gene encoding serine dehydratase. 
  • Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13. 
  • Ring chromosome 17: phenotype variation by deletion size. 
  • Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome. 
  • Selection and analysis of spontaneous reciprocal mitotic cross-overs in Saccharomyces cerevisiae. 
  • Sites of P element insertion and structures of P element deletions in the 5' region of Drosophila melanogaster RpII215. 
  • Sites of circularization of the Tetrahymena rRNA IVS are determined by sequence and influenced by position and secondary structure. 
  • Sites of copy choice replication involved in generation of vesicular stomatitis virus defective-interfering particle RNAs. 
  • Socioeconomic status and psychological function in children with chromosome 22q11.2 deletion syndrome: implications for genetic counseling. 
  • Sodium channel density in hypomyelinated brain increased by myelin basic protein gene deletion. 
  • Structural alterations of the epidermal growth factor receptor gene in human gliomas. 
  • Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization. 
  • Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. 
  • T-lymphoblastic lymphoma and acute myeloid leukaemia transformed from myeloid neoplasm with eosinophilia: a divergent evolution of myeloid neoplasm with monosomy 7 but no detectable tyrosine kinase gene rearrangements designated by the WHO Classification. 
  • The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. 
  • The arrangement of the immunoglobulin-like domains of ICAM-1 and the binding sites for LFA-1 and rhinovirus. 
  • The claret locus in Drosophila encodes products required for eyecolor and for meiotic chromosome segregation. 
  • The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome. 
  • The genetic determinant of adhesive function in type 1 fimbriae of Escherichia coli is distinct from the gene encoding the fimbrial subunit. 
  • The glucocorticoid hormone signal transduction pathway in mice homozygous for chromosomal deletions causing failure of cell type-specific inducible gene expression. 
  • The mast cell-specific expression of a protease gene, RMCP II, is regulated by an enhancer element that binds specifically to mast cell trans-acting factors. 
  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? 
  • Trans-activating rev protein of the human immunodeficiency virus 1 interacts directly and specifically with its target RNA. 
  • Transcription of a poxvirus early gene is regulated both by a short promoter element and by a transcriptional termination signal controlling transcriptional interference. 
  • Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature. 
  • Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. 
  • Virulence genes of poxviruses and reoviruses. 
  • Y353/B: a candidate multiple-copy spermiogenesis gene on the mouse Y chromosome. 
  • [Inflammatory stage of incontinentia pigmenti (Bloch-Sulzberger syndrome)]. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Erickson, Harold Paul, James B. Duke Distinguished Professor Emeritus, Cell Biology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Sullivan, Beth Ann, Professor of Molecular Genetics and Microbiology, Duke Science & Society