Distúrbio cromossômico em que a constituição cromossômica de uma célula contém múltiplos do número normal de cromossomos; inclui triploidia (símbolo: 3N), tetraploidia (símbolo: 4N), etc.
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Distúrbio cromossômico em que a constituição cromossômica de uma célula contém múltiplos do número normal de cromossomos; inclui triploidia (símbolo: 3N), tetraploidia (símbolo: 4N), etc.
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Publicações mais relevantes
X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.
Sex chromosome pairs, while carrying sex-determining genes, often exhibit marked structural heteromorphism due to extensive gene loss on the sex-specific chromosome. This heteromorphism generates a fundamental dosage imbalance in sex-linked gene expression, with one sex having one copy and the other two. To address this imbalance and equalize gene expression between the sexes, many species have evolved epigenetic-based, chromosome-wide dosage compensation (DC) mechanisms. While the molecular machinery governing such processes is well characterized in model organisms, the cause of sex-specific lethality due to compensation failure or naturally occurring X monosomy remains unknown. Here, we innovated Drosophila melanogaster genetic tools to investigate X chromosome DC in somatic organs. By implementing ∼150 cell-type-specific perturbations across developmental stages, we uncover cell populations requiring X chromosome DC for sex-specific survival to adulthood. Unexpectedly, DC is largely dispensable across many tissues and developmental stages, with the exception, among others, of the respiratory system during metamorphosis, where X chromosome DC determines adult stem cell viability. Furthermore, we demonstrate that cellular polyploidy confers insensitivity to X-dosage perturbations, providing a mechanistic explanation for cell-type-specific dispensability of DC. These findings reveal how X aneuploidy impairs development and highlight the initial cellular events leading to organismal death.
Speciation by hybridization: the mind-boggling nature, educational, and research value of the largest group of unisexual vertebrates.
Thirteen species of North American lizards are remarkable because only females exist, which reproduce by cloning unfertilized eggs. Their closest relatives reproduce sexually, with eggs fertilized by sperm from males, as in most vertebrates. The unisexual species originated through hybridization, dispensing with sex and males in a single generation. These lizards hold tremendous potential in science education as a fascinating model for learning about fundamental biological concepts, and in research for developing knowledge with medical applications for reproductive biology, embryonic development, and genetic interactions. These lizards maintain genome integrity in a hybrid state in which recombination is absent, but do not suffer from conditions or disorders such as Down's Syndrome or cancer that are caused by aneuploidy in humans. The multifarious impacts of hybridization on the diversity of species in this group present an exceptional opportunity to deepen understanding of the complicated process of evolutionary diversification.
An interactive heuristic model to test ecological and evolutionary hypotheses on incipient polyploid species.
Polyploidization is associated with lineage-specific changes that promote divergence and speciation. Knowledge about the establishment of neopolyploids is fragmentary. We use an open-source multi-agent software to build a scalable easy-to-use command center for analysing complex diploid-polyploid interactions. The workspace is a multilayered environment whose eco-variables fluctuate between generations. Reproductive syndromes, recombinant/clonal inheritance and complex traits (adaptivity, niche breadth, dispersal) are used to elicit fitness values and monitor population spatial dynamics. Neopolyploidization was recurrent, polytopic and heterogeneous in time. Increasing rates of unreduced gametes accelerated the establishment of neopolyploids but removed the role of triploids. Under standard rates and heterogeneous environment, model-based evidence shows that (1) a large proportion of polyploidization events are unsuccessful, (2) parental traits and local conditions prime a loss of diploid fitness that benefited eco-geographic structured polyploid success, (3) self-fertility and apomixis improve the rate of polyploidization, and shorten the time required for demographic establishment, and (4) ecological niche shifts promote cytotype coexistence, but niche expansion favors establishment and foster cytotype displacement. The modelling framework offers opportunities for in-depth lineage-specific analyses of the spatiotemporal dynamics and evolutionary differentiation in diploid-polyploid systems.
Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.
Human RECQL4 and BLM helicases participate in all DNA dependent processes, including replication stress, DNA damage repair. Both helicases are overexpressed in glioblastoma (GBM), a lethal primary brain tumour, characterised by resistance to radio- and chemotherapy. BLM-depleted glioma cells exhibit senescence-associated or polypoid phenotype when exposed to temozolomide (TMZ) and olaparib (OLA), a PARP inhibitor. This study aims to investigate how RECQL4 depletion influences the response of malignant gliomas to chemotherapeutics. We investigated the effect of RECQL4 depletion in glioma cells on cell growth, apoptosis, senescence and polyploidy in the response to combined TMZ and OLA treatment. We compared transcriptomes of RECQL4- and BLM-depleted LN18 and LN229 glioma cells. Drug-induced cytotoxicity, senescence-associated phenotypes, cell cycle alterations, and polyploidy were assessed using the MTT metabolic assay, β-galactosidase activity assay, and propidium iodide staining. RECQL4 depletion modestly affected basal glioma cell viability and proliferation, similarly to knock out of the BLM protein. Deletion of RECQL4 in glioma cells (RQ4 KO) induced profound transcriptomic alterations, dissimilar to BLM depletion. RECQL4-depleted glioma cells treated with TMZ and OLA exhibited reduced viability and increased levels of apoptosis markers. The treatment induced cell cycle arrest, however, RQ4 KO cells did not show signs of senescence phenotype or polyploidisation, when compared to BLM KO glioma cells. Interestingly, both RQ4 KO and BLM KO cells were more resistant to WP744, a doxorubicin derivative, when compared to WT LN229 glioma cells. Our results highlight the distinct roles of RecQ helicases in a response to chemotherapeutics and support a rationale for targeting RECQL4 as a therapeutic strategy in glioblastoma.
Potential of tetraploid wheats in plant breeding: A review.
Domestication syndrome, selection pressure, and modern plant breeding programs have reduced the genetic diversity of the wheat germplasm. For the genetic gains of breeding programs to be sustainable, plant breeders require a diverse gene pool to select genes for resistance to biotic stress factors, tolerance to abiotic stress factors, and improved quality and yield components. Thus, old landraces, subspecies and wild ancestors are rich sources of genetic diversity that have not yet been fully exploited, and it is possible to utilize this diversity. Compared with durum wheat, tetraploid wheat subspecies have retained much greater genetic diversity despite genetic drift and various environmental influences, and the identification and utilization of this diversity can make a greater contribution to the genetic enrichment of wheat. In addition, using the pre-breeding method, the valuable left-behind alleles in the wheat gene pool can be re-introduced through hybridization and introgressive gene flow to create a sustainable opportunity for the genetic gain of wheat. This review provides some insights about the potential of tetraploid wheats in plant breeding and the genetic gains made by them in plant breeding across past decades, and gathers the known functional information on genes/QTLs, metabolites, traits and their direct involvement in wheat resistance/tolerance to biotic/abiotic stresses.
Publicações recentes
Spermatogenesis depletion in diploid and triploid yellowtail tetra (Astyanax altiparanae) for germ cell transplantation.
Pan-genomics of polyploid crops: from complexity to breeding.
Polyploidy and Mutagenic Germplasm Innovation in Minor Legumes: Paradigm Shift and Challenges from Model Crops to Mung Bean.
Schizothoracinae in Plateau River Networks: Drainage History, Polyploid Genome Evolution, Multi-Omics Evidence Chains, and Conservation Units.
Somatic genome-doubling is the most parsimonious route to allopolyploidy.
📚 EuropePMC7 artigos no totalmostrando 68
X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.
Current biology : CBAn interactive heuristic model to test ecological and evolutionary hypotheses on incipient polyploid species.
Scientific reportsShared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.
BMC cancerSpeciation by hybridization: the mind-boggling nature, educational, and research value of the largest group of unisexual vertebrates.
BioscienceComprehensive epidemiological evaluation of ruminant brucellosis and associated risk factors in some Egyptian Governorates.
Veterinary worldPlant chromosome polytenization contributes to suppression of root growth in high polyploids.
Journal of experimental botanyPotential of tetraploid wheats in plant breeding: A review.
Plant science : an international journal of experimental plant biologyDetection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on prenatal ultrasound and a false negative non-invasive prenatal testing result in the first trimester.
Taiwanese journal of obstetrics & gynecologyA Challenging Case of Diabetes in a Patient With XXYY Syndrome.
JCEM case reportsUsefulness of early morphological ultrasound in association with cell-free DNA testing in case of atypical serum markers in first trimester of pregnancy: A retrospective study over 5 years.
Journal of gynecology obstetrics and human reproductionLoss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest.
Experimental cell researchPhylogenomic analysis reveals five independently evolved African forage grass clades in the genus Urochloa.
Annals of botanySeparating phases of allopolyploid evolution with resynthesized and natural Capsella bursa-pastoris.
eLifeMaternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Acta obstetricia et gynecologica ScandinavicaMosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.
HGG advancesAssociation between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis.
Prenatal diagnosisTrisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development.
eLifeKinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development.
Cell death discovery[Discordant Down syndrome risk calculation with low maternal serum markers: About five cases of digynic triploidies].
Gynecologie, obstetrique, fertilite & senologieConvergence without divergence in North American red-flowering Silene.
Frontiers in plant scienceDispersed emergence and protracted domestication of polyploid wheat uncovered by mosaic ancestral haploblock inference.
Nature communicationsChromosome-level and haplotype-resolved genome provides insight into the tetraploid hybrid origin of patchouli.
Nature communicationsPhylogeny of Merlin's grass (Isoetaceae): revealing an "Amborella syndrome" and the importance of geographic distribution for understanding current and historical diversity.
BMC ecology and evolutionBehavioural traits of rainbow trout and brown trout may help explain their differing invasion success and impacts.
Scientific reportsSequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
CirculationCongenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
American journal of hematologyChromosomal aberrations after induced pluripotent stem cells reprogramming.
Genetics and molecular biologyPrenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus.
Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieLoss of Adam10 Disrupts Ion Transport in Immortalized Kidney Collecting Duct Cells.
Function (Oxford, England)Gynogenetic diploids, tetraploids, or octoploids, and a path to polyploidy in anuran amphibians.
GenomeHuman-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.
Nature geneticsGenomic and transcriptomic resources for candidate gene discovery in the Ranunculids.
Applications in plant sciences[Analysis of genetic and clinical characteristics of nine cases of myelodysplastic syndrome with near tetraploid/tetraploidy karyotype].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsPolyploidization is accompanied by synonymous codon usage bias in the chloroplast genomes of both cotton and wheat.
PloS oneExencephaly-anencephaly Sequence.
American journal of obstetrics and gynecologyPeriodic albinism of a widely used albino mutant of Xenopus laevis caused by deletion of two exons in the Hermansky-Pudlak syndrome type 4 gene.
Genes to cells : devoted to molecular & cellular mechanismsMaternal complications of fetal triploidy: a case report.
BMJ case reportsBalanced Genome Triplication in Wheat Causes Premature Growth Arrest and an Upheaval of Genome-Wide Gene Regulation.
Frontiers in geneticsDetection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.
Molecular medicine reportsUsefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.
Journal of human geneticsMaternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review.
Archives of gynecology and obstetricsLRPPRC sustains Yap-P27-mediated cell ploidy and P62-HDAC6-mediated autophagy maturation and suppresses genome instability and hepatocellular carcinomas.
OncogenePrenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.
Prenatal diagnosisObstetric complications in pregnancies with life-limiting malformations.
Current opinion in obstetrics & gynecologyClinical and anatomopathological aspects of patients with hantavirus cardiopulmonary syndrome in Uberaba, Minas Gerais, Brazil.
Revista do Instituto de Medicina Tropical de Sao PauloBACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping.
Molecular biology reportsParallelism and convergence in post-domestication adaptation in cereal grasses.
Philosophical transactions of the Royal Society of London. Series B, Biological sciencesTowards the new normal: Transcriptomic convergence and genomic legacy of the two subgenomes of an allopolyploid weed (Capsella bursa-pastoris).
PLoS geneticsDetecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.
Acta oto-laryngologicaCompression of morbidity in a progeroid mouse model through the attenuation of myostatin/activin signalling.
Journal of cachexia, sarcopenia and musclePlacental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.
Fetal and pediatric pathology[Genetic analysis of a fetus with partial 18p tetraploidy syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics[Clinical application of STR genotyping diagnosis for hydatidiform mole and nonmolar gestation].
Zhonghua bing li xue za zhi = Chinese journal of pathology[Cytogenetic and molecular genetic analysis of the amniotic fluid cells of a fetus with pseudodicentric isochromosome 22 resulting in partial tetraploidy of 22q].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsA method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.
BMC medical geneticsFetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.
Acta obstetricia et gynecologica ScandinavicaGlobal grass (Poaceae) success underpinned by traits facilitating colonization, persistence and habitat transformation.
Biological reviews of the Cambridge Philosophical Society[Application of Chromosomal Microarray Analysis for Chromosomal Abnormalities of Spontaneously Aborted Fetuses].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionMegakaryocyte and polyploidization.
Experimental hematologyBackground radiation and childhood leukemia: A nationwide register-based case-control study.
International journal of cancerThe effect of amifostine on differentiation of the human megakaryoblastic Dami cell line.
Cancer medicineQTLs for uniform grain dimensions and germination selected during wheat domestication are co-located on chromosome 4B.
TAG. Theoretical and applied genetics. Theoretische und angewandte GenetikAnatomical and clinical aspects of Klinefelter's syndrome.
Clinical anatomy (New York, N.Y.)Conjunctival polyploid cells and donor-derived myofibroblasts in ocular GvHD.
Bone marrow transplantationA female newborn having mosaicism with near-tetraploidy and trisomy 18.
American journal of medical genetics. Part AFirst-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyTriploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.
American journal of medical genetics. Part ATraditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyAssociações
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Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.
- Speciation by hybridization: the mind-boggling nature, educational, and research value of the largest group of unisexual vertebrates.
- An interactive heuristic model to test ecological and evolutionary hypotheses on incipient polyploid species.
- Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.
- Potential of tetraploid wheats in plant breeding: A review.Plant science : an international journal of experimental plant biology· 2024· PMID 38885883mais citado
- Spermatogenesis depletion in diploid and triploid yellowtail tetra (Astyanax altiparanae) for germ cell transplantation.
- Pan-genomics of polyploid crops: from complexity to breeding.
- Polyploidy and Mutagenic Germplasm Innovation in Minor Legumes: Paradigm Shift and Challenges from Model Crops to Mung Bean.
- Schizothoracinae in Plateau River Networks: Drainage History, Polyploid Genome Evolution, Multi-Omics Evidence Chains, and Conservation Units.
- Somatic genome-doubling is the most parsimonious route to allopolyploidy.
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Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:96321(Orphanet)
- MONDO:0019934(MONDO)
- GARD:19348(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q213410(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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