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Poliploidia
ORPHA:96321CID-10 · Q92.7CID-11 · LD42DOENÇA RARA

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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Introdução

O que você precisa saber de cara

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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.

Publicações científicas
6.270 artigos
Último publicado: 2026 Apr 16
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SUS: Cobertura mínimaScore: 15%
CID-10: Q92.7
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

😀
Face
6 sintomas
👁️
Olhos
3 sintomas
🧠
Neurológico
3 sintomas
🫃
Digestivo
3 sintomas
🫘
Rins
3 sintomas
👂
Ouvidos
2 sintomas

+ 20 sintomas em outras categorias

Características mais comuns

Aplasia/Hipoplasia afetando o olho
Genitália ambígua
Holoprosencefalia
Aplasia/Hipoplasia do corpo caloso
Orelhas com rotação posterior
Sindactilia dos dedos
46sintomas
Sem dados (46)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.

Aplasia/Hipoplasia afetando o olhoAplasia/Hypoplasia affecting the eye
Genitália ambíguaAmbiguous genitalia
HoloprosencefaliaHoloprosencephaly
Aplasia/Hipoplasia do corpo calosoAplasia/Hypoplasia of the corpus callosum
Orelhas com rotação posteriorPosteriorly rotated ears

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa5desde 2021
Total histórico6.270PubMed
Últimos 10 anos69publicações
Pico202013 papers
Linha do tempo
2021Hoje · 2026📈 2020Ano de pico🧪 2025Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

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Genética e causas

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Publicações mais relevantes

Timeline de publicações
1 papers (10 anos)
#1

X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.

Current biology : CB2026 Jan 19

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.

#2

Speciation by hybridization: the mind-boggling nature, educational, and research value of the largest group of unisexual vertebrates.

Bioscience2025 Apr

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.

#3

An interactive heuristic model to test ecological and evolutionary hypotheses on incipient polyploid species.

Scientific reports2025 Nov 27

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.

#4

Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.

BMC cancer2025 Sep 29

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.

#5

Potential of tetraploid wheats in plant breeding: A review.

Plant science : an international journal of experimental plant biology2024 Sep

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

Ver todas no PubMed

📚 EuropePMC7 artigos no totalmostrando 68

2026

X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.

Current biology : CB
2025

An interactive heuristic model to test ecological and evolutionary hypotheses on incipient polyploid species.

Scientific reports
2025

Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.

BMC cancer
2025

Speciation by hybridization: the mind-boggling nature, educational, and research value of the largest group of unisexual vertebrates.

Bioscience
2024

Comprehensive epidemiological evaluation of ruminant brucellosis and associated risk factors in some Egyptian Governorates.

Veterinary world
2024

Plant chromosome polytenization contributes to suppression of root growth in high polyploids.

Journal of experimental botany
2024

Potential of tetraploid wheats in plant breeding: A review.

Plant science : an international journal of experimental plant biology
2024

Detection 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 & gynecology
2024

A Challenging Case of Diabetes in a Patient With XXYY Syndrome.

JCEM case reports
2024

Usefulness 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 reproduction
2024

Loss-of-function of kinesin-5 KIF11 causes microcephaly, chorioretinopathy, and developmental disorders through chromosome instability and cell cycle arrest.

Experimental cell research
2024

Phylogenomic analysis reveals five independently evolved African forage grass clades in the genus Urochloa.

Annals of botany
2024

Separating phases of allopolyploid evolution with resynthesized and natural Capsella bursa-pastoris.

eLife
2024

Maternal 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 Scandinavica
2024

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

HGG advances
2023

Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis.

Prenatal diagnosis
2023

Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development.

eLife
2022

Kinesin-5 Eg5 is essential for spindle assembly, chromosome stability and organogenesis in development.

Cell death discovery
2023

[Discordant Down syndrome risk calculation with low maternal serum markers: About five cases of digynic triploidies].

Gynecologie, obstetrique, fertilite & senologie
2022

Convergence without divergence in North American red-flowering Silene.

Frontiers in plant science
2022

Dispersed emergence and protracted domestication of polyploid wheat uncovered by mosaic ancestral haploblock inference.

Nature communications
2022

Chromosome-level and haplotype-resolved genome provides insight into the tetraploid hybrid origin of patchouli.

Nature communications
2022

Phylogeny of Merlin's grass (Isoetaceae): revealing an "Amborella syndrome" and the importance of geographic distribution for understanding current and historical diversity.

BMC ecology and evolution
2022

Behavioural traits of rainbow trout and brown trout may help explain their differing invasion success and impacts.

Scientific reports
2021

Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Circulation
2022

Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.

American journal of hematology
2021

Chromosomal aberrations after induced pluripotent stem cells reprogramming.

Genetics and molecular biology
2020

Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2021

Loss of Adam10 Disrupts Ion Transport in Immortalized Kidney Collecting Duct Cells.

Function (Oxford, England)
2021

Gynogenetic diploids, tetraploids, or octoploids, and a path to polyploidy in anuran amphibians.

Genome
2021

Human-chimpanzee fused cells reveal cis-regulatory divergence underlying skeletal evolution.

Nature genetics
2021

Genomic and transcriptomic resources for candidate gene discovery in the Ranunculids.

Applications in plant sciences
2020

[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 genetics
2020

Polyploidization is accompanied by synonymous codon usage bias in the chloroplast genomes of both cotton and wheat.

PloS one
2020

Exencephaly-anencephaly Sequence.

American journal of obstetrics and gynecology
2021

Periodic 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 mechanisms
2020

Maternal complications of fetal triploidy: a case report.

BMJ case reports
2020

Balanced Genome Triplication in Wheat Causes Premature Growth Arrest and an Upheaval of Genome-Wide Gene Regulation.

Frontiers in genetics
2020

Detection of chromosomal abnormalities in spontaneous miscarriage by low‑coverage next‑generation sequencing.

Molecular medicine reports
2020

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.

Journal of human genetics
2020

Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review.

Archives of gynecology and obstetrics
2020

LRPPRC sustains Yap-P27-mediated cell ploidy and P62-HDAC6-mediated autophagy maturation and suppresses genome instability and hepatocellular carcinomas.

Oncogene
2020

Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations.

Prenatal diagnosis
2019

Obstetric complications in pregnancies with life-limiting malformations.

Current opinion in obstetrics & gynecology
2019

Clinical and anatomopathological aspects of patients with hantavirus cardiopulmonary syndrome in Uberaba, Minas Gerais, Brazil.

Revista do Instituto de Medicina Tropical de Sao Paulo
2020

BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping.

Molecular biology reports
2019

Parallelism and convergence in post-domestication adaptation in cereal grasses.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences
2019

Towards the new normal: Transcriptomic convergence and genomic legacy of the two subgenomes of an allopolyploid weed (Capsella bursa-pastoris).

PLoS genetics
2019

Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.

Acta oto-laryngologica
2019

Compression of morbidity in a progeroid mouse model through the attenuation of myostatin/activin signalling.

Journal of cachexia, sarcopenia and muscle
2018

Placental Pathology in Beckwith-Wiedemann Syndrome According to Genotype/Epigenotype Subgroups.

Fetal and pediatric pathology
2018

[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
2018

[Clinical application of STR genotyping diagnosis for hydatidiform mole and nonmolar gestation].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2018

[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 genetics
2018

A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.

BMC medical genetics
2018

Fetal aneuploidy diagnosed at celocentesis for early prenatal diagnosis of congenital hemoglobinopathies.

Acta obstetricia et gynecologica Scandinavica
2018

Global grass (Poaceae) success underpinned by traits facilitating colonization, persistence and habitat transformation.

Biological reviews of the Cambridge Philosophical Society
2017

[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 edition
2018

Megakaryocyte and polyploidization.

Experimental hematology
2016

Background radiation and childhood leukemia: A nationwide register-based case-control study.

International journal of cancer
2016

The effect of amifostine on differentiation of the human megakaryoblastic Dami cell line.

Cancer medicine
2016

QTLs for uniform grain dimensions and germination selected during wheat domestication are co-located on chromosome 4B.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik
2016

Anatomical and clinical aspects of Klinefelter's syndrome.

Clinical anatomy (New York, N.Y.)
2016

Conjunctival polyploid cells and donor-derived myofibroblasts in ocular GvHD.

Bone marrow transplantation
2016

A female newborn having mosaicism with near-tetraploidy and trisomy 18.

American journal of medical genetics. Part A
2016

First-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 Gynecology
2016

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

American journal of medical genetics. Part A
2015

Traditional 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 Gynecology

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival.
    Current biology : CB· 2026· PMID 41435827mais citado
  2. Speciation by hybridization: the mind-boggling nature, educational, and research value of the largest group of unisexual vertebrates.
    Bioscience· 2025· PMID 40276476mais citado
  3. An interactive heuristic model to test ecological and evolutionary hypotheses on incipient polyploid species.
    Scientific reports· 2025· PMID 41298893mais citado
  4. Shared and non-overlapping functions of RECQL4 and BLM helicases in chemotherapeutics-induced glioma cell responses.
    BMC cancer· 2025· PMID 41023983mais citado
  5. Potential of tetraploid wheats in plant breeding: A review.
    Plant science : an international journal of experimental plant biology· 2024· PMID 38885883mais citado
  6. Spermatogenesis depletion in diploid and triploid yellowtail tetra (Astyanax altiparanae) for germ cell transplantation.
    Zygote· 2026· PMID 41988774recente
  7. Pan-genomics of polyploid crops: from complexity to breeding.
    Front Plant Sci· 2026· PMID 41988419recente
  8. Polyploidy and Mutagenic Germplasm Innovation in Minor Legumes: Paradigm Shift and Challenges from Model Crops to Mung Bean.
    Plants (Basel)· 2026· PMID 41977709recente
  9. Schizothoracinae in Plateau River Networks: Drainage History, Polyploid Genome Evolution, Multi-Omics Evidence Chains, and Conservation Units.
    Animals (Basel)· 2026· PMID 41976015recente
  10. Somatic genome-doubling is the most parsimonious route to allopolyploidy.
    New Phytol· 2026· PMID 41968279recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:96321(Orphanet)
  2. MONDO:0019934(MONDO)
  3. GARD:19348(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. 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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Poliploidia
Compêndio · Raras BR

Poliploidia

ORPHA:96321 · MONDO:0019934
CID-10
Q92.7 · Triploidia e poliploidia
CID-11
MedGen
UMLS
C0032578
EuropePMC
Wikidata
Wikipedia
Papers 10a
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