Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
paper
Cited
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- Authors
- Conlin, Laura K; Thiel, Brian D; Bonnemann, Carsten G; Medne, Livija; Ernst, Linda M; Zackai, Elaine H; Deardorff, Matthew A; Krantz, Ian D; Hakonarson, Hakon; Spinner, Nancy B
- Year
- 2010
- Journal
- Human molecular genetics
- PMID
- 20053666
- DOI
- 10.1093/hmg/ddq003
- PMCID
- PMC3146011
Mosaic aneuploidy and uniparental disomy (UPD) arise from mitotic or meiotic events. There are differences between these mechanisms in terms of (i) impact on embryonic development; (ii) co-occurrence of mosaic trisomy and UPD and (iii) potential recurrence risks. We used a genome-wide single nucleotide polymorphism (SNP) array to study patients with chromosome aneuploidy mosaicism, UPD and one individual with XX/XY chimerism to gain insight into the developmental mechanism and timing of these events. Sixteen cases of mosaic aneuploidy originated mitotically, and these included four rare trisomies and all of the monosomies, consistent with the influence of selective factors. Five trisomies arose meiotically, and three of the five had UPD in the disomic cells, confirming increased risk for UPD in the case of meiotic non-disjunction. Evidence for the meiotic origin of aneuploidy and UPD was seen in the patterns of recombination visible during analysis with 1-3 crossovers per chromosome. The mechanisms of formation of the UPD included trisomy rescue, with and without concomitant trisomy, monosomy rescue, and mitotic formation of a mosaic segmental UPD. UPD was also identified in an XX/XY chimeric individual, with one cell line having complete maternal UPD consistent with a parthenogenetic origin. Utilization of SNP arrays allows simultaneous evaluation of genomic alterations and insights into aneuploidy and UPD mechanisms. Differentiation of mitotic and meiotic origins for aneuploidy and UPD supports existence of selective factors against full trisomy of some chromosomes in the early embryo and provides data for estimation of recurrence and disease mechanisms.
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| A girl with incomplete Prader-Willi syndrome and negative MS-PCR, found to have mosaic maternal UPD-15 at SNP array. | Morandi A et al. | β | 2015 | β |
| Copy number variations could predict the outcome of bortezomib plus melphalan and prednisone for initial treatment of multiple myeloma. | Kim M et al. | β | 2015 | β |
| Detecting somatic mosaicism: considerations and clinical implications. | Cohen AS et al. | β | 2015 | β |
| Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies. | Luo M et al. | β | 2015 | β |
| Meiotic Nondisjunction: Insights into the Origin and Significance of Aneuploidy in Human Spermatozoa. | Ioannou D et al. | β | 2015 | β |
| Mosaicism and uniparental disomy in prenatal diagnosis. | Eggermann T et al. | β | 2015 | β |
| Mosaicism for trisomy 21: a review. | Papavassiliou P et al. | β | 2015 | β |
| Mosaic paternal genome-wide uniparental isodisomy with down syndrome. | Darcy D et al. | β | 2015 | β |
| Mosaic structural variation in children with developmental disorders. | King DA et al. | β | 2015 | β |
| No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations. | Winberg J et al. | β | 2015 | β |
| On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients. | Sala Frigerio C et al. | β | 2015 | β |
| Overview of genetics of disorders of sexual development. | Rodriguez-Buritica D | β | 2015 | β |
| PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1. | Zhan Y et al. | β | 2015 | β |
| Prenatal diagnosis of complete maternal uniparental isodisomy of chromosome 4 in a fetus without congenital abnormality or inherited disease-associated variations. | Liu W et al. | β | 2015 | β |
| Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays. | Liu W et al. | β | 2015 | β |
| Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer. | Forsberg LA et al. | β | 2015 | β |
| Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. | Ε½ilina O et al. | β | 2015 | β |
| Somatic mosaicism: implications for disease and transmission genetics. | Campbell IM et al. | β | 2015 | β |
| Trisomy 15 mosaicism: Challenges in prenatal diagnosis. | Silva M et al. | β | 2015 | β |
| Whole-genome array as a first-line cytogenetic test in prenatal diagnosis. | Srebniak MI et al. | β | 2015 | β |
| Acquired chromosomal anomalies in chronic lymphocytic leukemia patients compared with more than 50,000 quasi-normal participants. | Laurie CC et al. | β | 2014 | β |
| Analysis of chromosomal structural variation in patients with congenital left-sided cardiac lesions. | White PS et al. | β | 2014 | β |
| A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders. | King DA et al. | β | 2014 | β |
| Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies. | Spreiz A et al. | β | 2014 | β |
| Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience. | Zilina O et al. | β | 2014 | β |
| Chromosome microarrays in diagnostic testing: interpreting the genomic data. | Peters GB et al. | β | 2014 | β |
| Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. | Wiszniewska J et al. | β | 2014 | β |
| Confined trisomy 8 mosaicism of meiotic origin: a rare cause of aneuploidy in childhood cancer. | Valind A et al. | β | 2014 | β |
| Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7. | Salas-LabadΓa C et al. | β | 2014 | β |
| Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors. | Roth JJ et al. | β | 2014 | β |
| Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy. | Bug S et al. | β | 2014 | β |
| Formation of a familial ring chromosome 18 investigated by SNP-array analysis. | Balci S et al. | β | 2014 | β |
| Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. | Kaur M et al. | β | 2014 | β |
| Mosaicism and clinical genetics. | Spinner NB et al. | β | 2014 | β |
| Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome. | Zilina O et al. | β | 2014 | β |
| Mutations in the ABCC6 gene as a cause of generalized arterial calcification of infancy: genotypic overlap with pseudoxanthoma elasticum. | Li Q et al. | β | 2014 | β |
| Recent advances in the study of somatic mosaicism and diseases other than cancer. | Erickson RP | β | 2014 | β |
| Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. | Prakash S et al. | β | 2014 | β |
| Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. | Pham J et al. | β | 2014 | β |
| Somatic mosaicism in the human genome. | Freed D et al. | β | 2014 | β |
| Ultra-High Density SNParray in Neuroblastoma Molecular Diagnostics. | Ambros IM et al. | β | 2014 | β |
| Unusual maternal uniparental isodisomic x chromosome mosaicism with asymmetric y chromosomal rearrangement. | Lee BY et al. | β | 2014 | β |
| Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness. | Grote L et al. | β | 2014 | β |
| 0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice. | Srebniak MI et al. | β | 2013 | β |
| A genomic view of mosaicism and human disease. | Biesecker LG et al. | β | 2013 | β |
| Aneuploidy, polyploidy and ploidy reversal in the liver. | Duncan AW | β | 2013 | β |
| Another rare prenatal case of post-zygotic mosaic trisomy 17. | de Vries FA et al. | β | 2013 | β |
| Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. | Kalish JM et al. | β | 2013 | β |
| Chromothripsis under the microscope: a cytogenetic perspective of two cases of AML with catastrophic chromosome rearrangement. | Mackinnon RN et al. | β | 2013 | β |
| Clinical application of targeted and genome-wide technologies: can we predict treatment responses in chronic lymphocytic leukemia? | Alsolami R et al. | β | 2013 | β |
| Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. | Kalish JM et al. | β | 2013 | β |
| Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? | Bi W et al. | β | 2013 | β |
| De novo copy number variations in cloned dogs from the same nuclear donor. | Jung SH et al. | β | 2013 | β |
| Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities. | Mason-Suares H et al. | β | 2013 | β |
| Detection of two equine trisomies using SNP-CGH. | Holl HM et al. | β | 2013 | β |
| Genetics. Genome mosaicism--one human, multiple genomes. | Lupski JR | β | 2013 | β |
| High resolution chromosomal microarray in undiagnosed neurological disorders. | Howell KB et al. | β | 2013 | β |
| Liver repopulation and regeneration: new approaches to old questions. | Duncan AW et al. | β | 2013 | β |
| Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants? | Ganesamoorthy D et al. | β | 2013 | β |
| Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array. | Izumi K et al. | β | 2013 | β |
| Myoclonus-dystonia and Silver-Russell syndrome resulting from maternal uniparental disomy of chromosome 7. | Sheridan MB et al. | β | 2013 | β |
| Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. | Forsberg LA et al. | β | 2013 | β |
| Partial uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies. | Jobanputra V et al. | β | 2013 | β |
| Pathogenic or not? Assessing the clinical relevance of copy number variants. | Hehir-Kwa JY et al. | β | 2013 | β |
| Persistent mosaicism for 12p duplication/triplication chromosome structural abnormality in peripheral blood. | Shackelford AL et al. | β | 2013 | β |
| Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10RΞ² and IFNAR1 genes. | Razzaghian HR et al. | β | 2013 | β |
| Republished: Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime. | Forsberg LA et al. | β | 2013 | β |
| Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method. | Baugher JD et al. | β | 2013 | β |
| The utility of chromosomal microarray analysis in developmental and behavioral pediatrics. | Beaudet AL | β | 2013 | β |
| A genome-wide linkage study of individuals with high scores on NEO personality traits. | Amin N et al. | β | 2012 | β |
| A genome-wide study of cytogenetic changes in colorectal cancer using SNP microarrays: opportunities for future personalized treatment. | Jasmine F et al. | β | 2012 | β |
| Age-related somatic structural changes in the nuclear genome of human blood cells. | Forsberg LA et al. | β | 2012 | β |
| An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays. | Eccleston JL et al. | β | 2012 | β |
| Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. | Le Scouarnec S et al. | β | 2012 | β |
| Chromosomal variation in lymphoblastoid cell lines. | Shirley MD et al. | β | 2012 | β |
| Chromosome abnormalities in Indonesian patients with short stature. | Paramayuda C et al. | β | 2012 | β |
| Chromosome microarray in Australia: a guide for paediatricians. | Palmer EE et al. | β | 2012 | β |
| Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. | Coughlin CR et al. | β | 2012 | β |
| Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts. | Veenma D et al. | β | 2012 | β |
| Currents in contemporary bioethics. Identifying consanguinity through routine genomic analysis: reporting requirements. | McGuire AL et al. | β | 2012 | β |
| Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis. | Lamb AN et al. | β | 2012 | β |
| Detectable clonal mosaicism and its relationship to aging and cancer. | Jacobs KB et al. | β | 2012 | β |
| Detectable clonal mosaicism from birth to old age and its relationship to cancer. | Laurie CC et al. | β | 2012 | β |
| Exploring the variation within. | Macosko EZ et al. | β | 2012 | β |
| Frequent aneuploidy among normal human hepatocytes. | Duncan AW et al. | β | 2012 | β |
| Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. | McGillivray G et al. | β | 2012 | β |
| Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics. | Vermeesch JR et al. | β | 2012 | β |
| Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities. | Srebniak MI et al. | β | 2012 | β |
| GWASTools: an R/Bioconductor package for quality control and analysis of genome-wide association studies. | Gogarten SM et al. | β | 2012 | β |
| High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results. | Siggberg L et al. | β | 2012 | β |
| Identification of the mechanism underlying a human chimera by SNP array analysis. | Shin SY et al. | β | 2012 | β |
| Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. | Robberecht C et al. | β | 2012 | β |
| Microarray analysis of copy number variation in single cells. | Konings P et al. | β | 2012 | β |
| Rare structural variation of synapse and neurotransmission genes in autism. | Gai X et al. | β | 2012 | β |
| Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. | PΓ©rez B et al. | β | 2012 | β |
| Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function. | Markello TC et al. | β | 2012 | β |
| Structural genetic variation in the context of somatic mosaicism. | Dumanski JP et al. | β | 2012 | β |
| Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. | Flore LA et al. | β | 2012 | β |
| Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. | Conlin LK et al. | β | 2012 | β |
| A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data. | GonzΓ‘lez JR et al. | β | 2011 | β |
| Aneuploidy in the human cleavage stage embryo. | Mantzouratou A et al. | β | 2011 | β |
| An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy. | Raymond G et al. | β | 2011 | β |
| A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia. | MΓ€nnik K et al. | β | 2011 | β |
| Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow. | Srebniak M et al. | β | 2011 | β |
| Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos. | Voet T et al. | β | 2011 | β |
| Clinical utility of single nucleotide polymorphism arrays. | Schwartz S | β | 2011 | β |
| Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia. | Zhang L et al. | β | 2011 | β |
| Copy number and SNP arrays in clinical diagnostics. | Schaaf CP et al. | β | 2011 | β |
| Copy-number changes in prenatal diagnosis. | Strassberg M et al. | β | 2011 | β |
| Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations. | Kearney HM et al. | β | 2011 | β |
| Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. | Bartnik M et al. | β | 2011 | β |
| Genome structural variation discovery and genotyping. | Alkan C et al. | β | 2011 | β |
| Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. | Swaminathan S et al. | β | 2011 | β |
| Identification of incestuous parental relationships by SNP-based DNA microarrays. | Schaaf CP et al. | β | 2011 | β |
| Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients. | Conlin LK et al. | β | 2011 | β |
| Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. | Bonaglia MC et al. | β | 2011 | β |
| Mosaic trisomy 13: understanding origin using SNP array. | Jinawath N et al. | β | 2011 | β |
| Mosaic trisomy 17: variable clinical and cytogenetic presentation. | Daber R et al. | β | 2011 | β |
| Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. | Magerus-Chatinet A et al. | β | 2011 | β |
| Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 with novel placental findings. | Cajaiba MM et al. | β | 2011 | β |
| Ribosomal protein gene deletions in Diamond-Blackfan anemia. | Farrar JE et al. | β | 2011 | β |
| Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation. | Gijsbers AC et al. | β | 2011 | β |
| UPD detection using homozygosity profiling with a SNP genotyping microarray. | Papenhausen P et al. | β | 2011 | β |
| Comparable low-level mosaicism in affected and non affected tissue of a complex CDH patient. | Veenma D et al. | β | 2010 | β |
| Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. | Miller DT et al. | β | 2010 | β |
| Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14. | Guilherme RS et al. | β | 2010 | β |
| Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. | Crowley MA et al. | β | 2010 | β |
| Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About? | HultΓ©n MA et al. | β | 2010 | β |
| Human embryonic stem cells as models for aneuploid chromosomal syndromes. | Biancotti JC et al. | β | 2010 | β |
| Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. | Prakash S et al. | β | 2010 | β |
| Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray. | Leon E et al. | β | 2010 | β |
| Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome. | RodrΓguez-Santiago B et al. | β | 2010 | β |
| Quality control and quality assurance in genotypic data for genome-wide association studies. | Laurie CC et al. | β | 2010 | β |
| Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation. | Razzaghian HR et al. | β | 2010 | β |
| Uniparental disomy and human disease: an overview. | Yamazawa K et al. | β | 2010 | β |