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Síndrome trissomia 13
ORPHA:3378CID-10 · Q91.4CID-11 · LD40.1DOENÇA RARA

A trissomia 13 é uma anomalia cromossômica causada pela presença de um cromossomo 13 extra e é caracterizada por malformações cerebrais (holoprosencefalia), dismorfismo facial, anomalias oculares, polidactilia pós-axial, malformações viscerais (cardiopatia) e retardo psicomotor grave.

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Introdução

O que você precisa saber de cara

📋

A trissomia 13 é uma anomalia cromossômica causada pela presença de um cromossomo 13 extra e é caracterizada por malformações cerebrais (holoprosencefalia), dismorfismo facial, anomalias oculares, polidactilia pós-axial, malformações viscerais (cardiopatia) e retardo psicomotor grave.

Pesquisas ativas
2 ensaios
25 total registrados no ClinicalTrials.gov
Publicações científicas
83 artigos
Último publicado: 2025 Sep

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-5 / 10 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
15.9
Japan
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q91.4
🇧🇷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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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

👁️
Olhos
8 sintomas
🦴
Ossos e articulações
5 sintomas
🧠
Neurológico
5 sintomas
😀
Face
5 sintomas
❤️
Coração
4 sintomas
👂
Ouvidos
3 sintomas

+ 23 sintomas em outras categorias

Características mais comuns

90%prev.
Polidactilia pós-axial da mão
Muito frequente (99-80%)
90%prev.
Hipotonia
Muito frequente (99-80%)
90%prev.
Atraso global grave do desenvolvimento
Muito frequente (99-80%)
90%prev.
Higroma cístico
Muito frequente (99-80%)
90%prev.
Pregas palmares transversas únicas bilaterais
Muito frequente (99-80%)
90%prev.
Anormalidade das fontanelas ou suturas cranianas
Muito frequente (99-80%)
60sintomas
Muito frequente (24)
Frequente (35)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 60 características clínicas mais associadas, ordenadas por frequência.

Polidactilia pós-axial da mãoPostaxial hand polydactyly
Muito frequente (99-80%)90%
HipotoniaHypotonia
Muito frequente (99-80%)90%
Atraso global grave do desenvolvimentoSevere global developmental delay
Muito frequente (99-80%)90%
Higroma císticoCystic hygroma
Muito frequente (99-80%)90%
Pregas palmares transversas únicas bilateraisBilateral single transverse palmar creases
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2025
Total histórico83PubMed
Últimos 10 anos200publicações
Pico202251 papers
Linha do tempo
2025Hoje · 2026🧪 2008Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Condição cromossômica — cromossomo 13

Causada pelo excesso de material do cromossomo 13. O fenótipo resulta da alteração na dose de múltiplos genes simultaneamente — não há gene causal único. Diagnóstico por cariótipo, CMA ou FISH.

Região crítica para síndrome de Patau: 13q14→q32. Genes dose-sensíveis incluem BRCA2, RB1, FLT1, FLT3.

Genes codificantes
327
no cromossomo 13
Haploinsuficientes
7
perda de dose patogênica
Triplosensíveis
0
excesso de dose patogênico

Genes triplosensíveis (sensíveis ao excesso de dose)

Genes do cromossomo 13 com evidência de sensibilidade à dose segundo ClinGen Dosage Map . São fortes candidatos a explicar parte do fenótipo.

Fontes: ClinGen Dosage Sensitivity Map · GENCODE v44 (GRCh38)

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico16
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 16 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome trissomia 13

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

25 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Divulgue para pacientes e familiares que acompanham esta doença.
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
22 papers (10 anos)
#1

Calculation of specific risk of trisomy 13: probably still a utopia.

Journal of gynecology obstetrics and human reproduction2026 Feb

In France, legislation regarding pregnancy monitoring considers screening solely for Down syndrom or trisomy 21 (T21). However, health authorities are exploring the possibility of calculating the risks of trisomy 13 (T13) and trisomy 18 (T18), Patau and Edwards syndromes respectively, for patients with indicative serum marker profiles (MSM), to make wider use of the potential of non-invasive prenatal testing (NIPT). Currently, only LifeCycle (revvity®), a software distributed worlwide, offers a specific risk calculation for T13, but its performance has never been assessed. We retrospectively studied 88 cases of T13 from a cohort of over 800,000 patients who underwent first-trimester MSM testing. In each case, in addition to the T21 risk, we calculated the specific risks of T18 and T13 using the LifeCycle software, both with and without the measurement of nuchal translucency for these two aneuploidies. None of the patients with a foetus affected by T13 showed an increased risk for this aneuploidy without simultaneously presenting a high risk for T21 or T18. The specific risk calculation for T13 using LifeCycle does not improve the screening for this aneuploidy.

#2

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population-Based Study From Japan.

American journal of medical genetics. Part A2026 Feb

Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large-scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns. To this end, a population-based study was conducted using Japanese population-based mortality data from the Vital Statistics Database (n = 4,230,092 death records); we examined early mortality and identified phenotypic subgroups based on combinations of co-occurring causes of death. We identified 150 individuals with trisomy 13 who died between 2019 and 2021. Cardiovascular disease was significantly associated with early mortality. Using K-means clustering based on principal components of cause-of-death categories, we identified three distinct subgroups: respiratory-dominant (19%), cardiovascular-dominant (64%), and multi-organ involvement (17%). The cardiovascular-dominant cluster showed the highest rate of death before age 1 (83%; p = 0.001), while surgical intervention rates did not significantly differ across clusters. These findings highlight phenotypic heterogeneity and may support individualized care planning for trisomy 13 and provide insights that may support future care and decision-making.

#3

Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study.

European journal of pediatrics2025 Dec 20

Objectives Trisomy 13 (T13) and 18 (T18) are lethal chromosomal abnormalities. While the prognosis is generally poor, recent evidence suggests that some infants with T13 and T18 are able to survive longer than previously supposed. These findings underline the importance of an individualised approach to perinatal/neonatal care. Methods This retrospective study included 193 pregnancies with T13 and T18 in a single tertiary center between 2005 and 2023. Fetal and maternal characteristics, overall survival, and perinatal and postnatal management were analysed. Results Of 193 affected fetuses, 142 (73.6%) were diagnosed with T18 and 51 (26.4%) with T13. Associated malformations were present in 90.7% (175 cases), with congenital heart defects being the most common (42%). A total of 161 (83,4%) women opted for termination of pregnancy (TOP). Gestational age at diagnosis was significantly higher among women opting to continue pregnancy compared to those opting for TOP. Among women continuing pregnancy, 65.6% (21/32) experienced intrauterine fetal death. Eleven pregnancies resulted in live births. Survival times for infants born alive ranged from 6 min to 60 days, with a median survival time of 18 h. Newborns affected by T18 lived significantly longer than those with T13 (median 33 h vs 6.5 h).Conclusion: The duration of survival in infants with T13 and T18 remains highly variable and difficult to predict. Management strategies must therefore be clarified within an interdisciplinary framework, supporting families through informed, individualised decision-making while balancing the poor prognosis with a focus on comfort, dignity, and quality of life.

#4

Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.

PloS one2025

Cell-free DNA (cf-DNA) screening for common trisomies has been increasingly assimilated into prenatal care. In this study, we evaluated the Z-score accuracy and the effectiveness of non-invasive prenatal testing (NIPT) for trisomies 21, 18, and 13 using cf-DNA, and further analyze pregnancy outcomes of NIPT-positive pregnant women. This retrospective study analyzed pregnancies that yielded positive NIPT results at Shaoxing Maternity and Child Health Care Hospital between 01/01/2017 and 31/12/2022. Invasive prenatal diagnosis (IPD) confirmed the positive NIPT findings. Logistic regression analysis was applied to correlation analysis of Z-scores and positive predictive value (PPV). Accuracy of Z-score was evaluated through receiver operating characteristic (ROC) curve analysis. Data regarding basic characteristics, prenatal diagnosis results, and pregnancy outcomes were collected. In total,257 high-risk cases of trisomy 21, 18, and 13 were identified. Among these,193 pregnancies underwent invasive prenatal diagnosis (IPD) in our institution, the PPV was 75.44% for T21,45.28% for T18, and 17.86% for T13. A significant association between Z-scores and PPVs were revealed by logistic regression(p < 0.05). The ROC curve analysis revealed optimal cutoff values of 7.231 for T21, 5.245 for T18, and 7.504 for T13. The corresponding areas under the curve (AUC) were 0.954, 0.941, and 0.924, respectively. Moreover, the PPV was statistically higher in the very-high-risk (VHR) group than in the general high-risk (GHR) group. In terms of pregnancy outcomes,98.51% (132/134) of pregnancies identified with chromosomal abnormalities were terminated, whereas 98.89% (89/90) of those diagnosed with false-positive results were carried to term. The study demonstrates that the Z-score is valuable in accurately assessing NIPT results. Consequently, clinicians can provide more efficient prenatal genetic counseling by utilizing a specific reference value for the Z-score.

#5

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

JAMA network open2025 Sep 02

Trisomy 13 (T13) and trisomy 18 (T18) are chromosomal abnormalities with high mortality rates in the first year of life. Understanding differences in long-term survival between children with full vs mosaic or partial trisomy is crucial for prognosis and health care planning. To examine the differences in 10-year survival between children with full T13 and T18 vs those with mosaic or partial trisomy. This retrospective, population-based cohort study assessed liveborn infants with T13 and T18 in the Texas Birth Defects Registry (deliveries from January 1, 1999, to December 31, 2008). Follow-up was through December 31, 2018 (the last date available at the time of analyses) to allow for 10 years of follow-up for all infants. All analyses were conducted from January 1, 2022, to December 31, 2024. Cytogenetic status (full trisomy vs mosaic or partial trisomy). The primary outcome was survival to 10 years of age, assessed using Kaplan-Meier survival estimates. The association between cytogenetic status and mortality by 10 years of age was assessed using Cox proportional hazards regression to generate hazard ratios (HRs). Population attributable fraction was calculated to determine the percentage of survival attributable to mosaic or partial trisomy status. The study cohort included 798 infants (463 female infants [58.0%]; mean [SD] maternal age, 30.9 [8.0] years) with T13 (n = 295) or T18 (n = 503). Among all cases with T13, 25 infants (8.5%; 95% CI, 5.5%-12.3%) survived to 10 years of age. Similarly, among all infants with T18, 43 (8.6%; 95% CI, 6.3%-11.3%) survived to 10 years of age. Kaplan-Meier survival estimates to 10 years of age were statistically significantly higher among children with mosaic or partial trisomy (13 [25.0%] and 14 [43.8%], respectively) compared with full trisomy (12 [4.9%] and 29 [6.6%], respectively) (both P < .001). Infants with full trisomy had statistically significantly increased 10-year mortality hazards compared with those with mosaic or partial trisomy for both T13 (HR, 2.00; 95% CI, 1.42-2.82) and T18 (HR, 3.34; 95% CI, 2.08-5.38). The results of the calculated proportion of 10-year survival due to the presence of nonfull trisomy status (population attributable fraction) was 41.7% for children with T13 and 27.9% for children with T18. The findings of this cohort study of infants with T13 and T18 support differences in long-term survival based on cytogenetic status and emphasize the need to potentially reassess the context of these conditions generally being considered incompatible with life, particularly for those with mosaic trisomies. These findings offer context surrounding treatment decisions, such as withholding interventions, for affected infants in the future.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC38 artigos no totalmostrando 197

2025

Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study.

European journal of pediatrics
2025

Attitudes to NIPT among pregnant women under 35 years of age.

Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
2026

Calculation of specific risk of trisomy 13: probably still a utopia.

Journal of gynecology obstetrics and human reproduction
2025

Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.

PloS one
2026

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population-Based Study From Japan.

American journal of medical genetics. Part A
2025

Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.

JAMA network open
2025

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13.

Clinical case reports
2025

Guidance for Caring for Infants and Children With Trisomy 13 and Trisomy 18: Clinical Report.

Pediatrics
2025

Counseling prior to cfDNA screening: are we giving the right numbers?

Archives of gynecology and obstetrics
2025

[Development and application of a digital PCR-based assay for rapid diagnosis of common fetal chromosomal aneuploidies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Genetic etiology of trisomy].

Soins. Psychiatrie
2025

[Results of screening and prenatal diagnosis for 71 fetuses with high risk for trisomy/monosomy 13 syndrome by non-invasive prenatal screening].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Outcomes of heart surgery in neonates with trisomy 13 and 18: a systematic review with metanalysis.

European journal of pediatrics
2025

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13.

Prenatal diagnosis
2025

Ethical challenges and justice concerns for infants and children with life-limiting conditions and significant disability, including trisomy 13 and 18.

Seminars in perinatology
2025

The Role of First-Trimester Ultrasound in Detecting Aortic and Pulmonary Valve Agenesis: A Rare Case of Trisomy 13.

Journal of clinical ultrasound : JCU
2025

Gastrostomy Tube Placement in Patients With Trisomy 13 and 18: Surgical Decision Making and Outcomes.

Journal of pediatric surgery
2025

Changes in Hospital Care of Newborn Infants with Trisomy 13.

Maternal and child health journal
2025

Early assessment of clinical complexity and home care in patients affected by trisomy 13 and 18.

European journal of pediatrics
2025

Accuracy of cell-free fetal DNA in detecting chromosomal anomalies in women experiencing miscarriage: systematic review and meta-analysis.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2024

Massive parallel sequencing-based non-invasive prenatal test (NIPT) identifies aberrations on chromosome 13.

European journal of obstetrics, gynecology, and reproductive biology
2024

Trisomy 13, home health-care and multidisciplinary approach: Case report.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2024

Amniotic fluid glucose concentration as a predictor of fetal trisomy.

The journal of obstetrics and gynaecology research
2024

Confined placental mosaicism with trisomy 13 complicated by severe preeclampsia: A case report and literature review.

The journal of obstetrics and gynaecology research
2025

Infertility following trisomic pregnancies: A nationwide cohort study.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2024

Potential efficacy of digital polymerase chain reaction for non-invasive prenatal screening of autosomal aneuploidies: a systematic review and meta-analysis.

BMC pregnancy and childbirth
2023

Phenotypic and cytogenetic variability of patau syndrome in Morocco.

African health sciences
2024

Hidradenitis suppurativa in patients with trisomy 13: a scoping review.

Archives of dermatological research
2024

Trends in the survival of patients with trisomy 13 from 1995 to 2021: A population study in Japan.

American journal of medical genetics. Part A
2024

Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2024

False positive non-invasive prenatal testing (NIPT) for trisomy 12 in a pregnancy associated with a favorable fetal outcome and normal hemogram in the pregnant woman.

Taiwanese journal of obstetrics &amp; gynecology
2024

Performance of cell-free DNA testing for common fetal trisomies in triplet pregnancies.

Prenatal diagnosis
2024

"She was finally mine": the moral experience of families in the context of trisomy 13 and 18- a scoping review with thematic analysis.

BMC medical ethics
2024

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA.

Nature communications
2024

Contemporary Trends in Cardiac Surgical Care for Trisomy 13 and 18 Patients Admitted to Hospitals in the United States.

The Journal of pediatrics
2024

The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect.

The Journal of thoracic and cardiovascular surgery
2024

Mosaicism for trisomy 13 in a single colony at amniocentesis in a pregnancy associated with a favorable outcome.

Taiwanese journal of obstetrics &amp; gynecology
2024

Rapid diagnosis of maternal origin of fetal trisomy 13 by quantitative fluorescent polymerase chain reaction in a pregnancy associated with young maternal age and omphalocele on prenatal ultrasound.

Taiwanese journal of obstetrics &amp; gynecology
2024

Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly.

Taiwanese journal of obstetrics &amp; gynecology
2024

[Prenatal diagnosis and outcome of pregnancy for women with high risks by screening of fetal free DNA from peripheral blood samples].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2024

Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.

Prenatal diagnosis
2024

Importance of a detailed anomaly scan after a cfDNA test indicating fetal trisomy 21, 18 or 13.

Archives of gynecology and obstetrics
2023

Patau and Edwards Syndromes in a University Hospital: beyond palliative care.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2024

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.

Prenatal diagnosis
2023

False positive non-invasive prenatal testing (NIPT) for trisomy 21 in vanishing twin syndrome pregnancy: A comparison of the NIPT results performed in different gestations.

Taiwanese journal of obstetrics &amp; gynecology
2024

Artificial intelligence for prenatal chromosome analysis.

Clinica chimica acta; international journal of clinical chemistry
2023

Trisomies Reorganize Human 3D Genome.

International journal of molecular sciences
2023

Economic cost of patients with trisomy 13, 18, and 21 in a tertiary hospital in Thailand.

PloS one
2024

The value of combined detailed first-trimester ultrasound-biochemical analysis for screening fetal aneuploidy in the era of non-invasive prenatal testing.

Archives of gynecology and obstetrics
2024

Airway findings in trisomy 13 and trisomy 18: A 10-year retrospective review.

Pediatric pulmonology
2023

Gabapentin for treatment of apnea in infants with trisomy 13 and 18.

Pediatrics international : official journal of the Japan Pediatric Society
2023

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report.

Medical archives (Sarajevo, Bosnia and Herzegovina)
2023

Screen-positive rate in cell free DNA screening for trisomy 21.

Prenatal diagnosis
2023

Clinical Potential of Expanded Noninvasive Prenatal Testing for Detection of Aneuploidies and Microdeletion/Microduplication Syndromes.

Molecular diagnosis &amp; therapy
2023

Impact of tracheostomies on the long-term survival of patients with trisomy 13 syndrome.

American journal of medical genetics. Part A
2024

Structured Framework for Multidisciplinary Parent Counseling and Medical Interventions for Fetuses and Infants with Trisomy 13 or Trisomy 18.

American journal of perinatology
2023

The common trisomy syndromes, their cardiac implications, and ethical considerations in care.

Current opinion in pediatrics
2023

[Retrospective analysis of cell-free fetal DNA prenatal testing of maternal peripheral blood].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

[Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2023

Application of QF-PCR Technology Combined With Early Pregnancy Ultrasound in Prenatal Screening for Fetal Chromosomal Aneuploidy.

Alternative therapies in health and medicine
2023

Syndromic congenital diaphragmatic hernia: Current incidence and outcome. Analysis from the congenital diaphragmatic hernia study group registry.

Prenatal diagnosis
2023

Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a positive NIPT result suspicious of trisomy 13, a CVS result of mosaic trisomy 13, cytogenetic discrepancy in various tissues and a favorable fetal outcome.

Taiwanese journal of obstetrics &amp; gynecology
2023

Causes of death in children with congenital anomalies up to age 10 in eight European countries.

BMJ paediatrics open
2023

A pilot study to screen the trisomy 13 from the amniotic fluid puncture.

Human cell
2023

The Clinical Application and Accuracy Evaluation of Noninvasive Prenatal Testing for Common Trisomy and Sex Chromosome Aneuploidy.

Discovery medicine
2023

Late first-trimester ultrasound findings can alter management after high-risk NIPT result.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2023

Ruptured Sinus of Valsalva Aneurysm Diagnosed on Coronary Computed Tomography Angiography in a Patient With Trisomy 13 Syndrome.

Texas Heart Institute journal
2023

Non-invasive prenatal testing (NIPT) in twin pregnancies affected by early single fetal demise: A systematic review of NIPT and vanishing twins.

Prenatal diagnosis
2023

Successful use of trichlormethiazide for diazoxide-related water retention in an infant with trisomy 13.

Pediatrics and neonatology
2023

Otolaryngologic Manifestations of Trisomy 13 and Trisomy 18 in Pediatric Patients.

The Laryngoscope
2023

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

Prenatal diagnosis
2023

Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.

PloS one
2023

Case report: Aplasia cutis congenita of the scalp with bone defect and an exposed sagittal sinus in a trisomy 13 newborn.

Frontiers in pediatrics
2023

Pregnancy outcomes and prenatal traditional karyotype analysis with fetal omphalocele.

Minerva obstetrics and gynecology
2023

Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study.

American journal of obstetrics and gynecology
2023

Non-Invasive prenatal testing with rolling circle amplification: Real-world clinical experience in a non-molecular laboratory.

Journal of clinical laboratory analysis
2023

Low-level mosaic trisomy 13 at amniocentesis in a pregnancy associated with a favorable fetal outcome and cytogenetic discrepancy in various tissues.

Taiwanese journal of obstetrics &amp; gynecology
2024

Ethical Implications of Cleft Lip and Palate Repair in Patients with Trisomy 13 and Trisomy 18.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2023

Holoprosencephaly in Patau Syndrome.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo
2023

Ten-year survival of children with trisomy 13 or trisomy 18: a multi-registry European cohort study.

Archives of disease in childhood
2023

Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21.

Journal of assisted reproduction and genetics
2023

Fetal Tethered Spinal Cord: Diagnostic Features and Its Association with Congenital Anomalies.

Fetal and pediatric pathology
2023

First Trimester Screening Tests Pregnancy and Trisomy 13 Syndrome, Sex Chromosome Aneuploidy in Iran: A Cross-Sectional Study.

International journal of fertility &amp; sterility
2023

Trisomy 13: Survival beyond the NICU.

NeoReviews
2025

Multidisciplinary Intervention for Patau Syndrome Patient with Long-Term Survival: A Case Report of Single Institution-Based Detailed Clinical Management.

Journal of microscopy and ultrastructure
2022

Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft.

Taiwanese journal of obstetrics &amp; gynecology
2023

Prenatal and fetal diagnosis of trisomy 18 after low-risk cell-free fetal DNA screening: A report of four cases.

Prenatal diagnosis
2022

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).

Prenatal diagnosis
2023

Surgical History and Outcomes in Trisomy 13 and 18: A Thirty-year Review.

Journal of pediatric surgery
2022

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.

Genes
2022

Cochlear Implantation in a Child with Patau Syndrome.

The journal of international advanced otology
2022

Positive predictive value of a single nucleotide polymorphism (SNP)-based NIPT for aneuploidy in twins: Experience from clinical practice.

Prenatal diagnosis
2022

[Clinical evaluation of true and false positive Z values among high-risk cases screened by non-invasive prenatal testing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2022

Intermittent Volvulus with Obstruction Due to a Meckel's Diverticulum and Band Presenting as Feeding Intolerance in a Neonate with Trisomy 13.

Oman medical journal
2022

Circulating Cell-free DNA and Screening for Trisomies.

The New England journal of medicine
2022

Prognostic factors, psychomotor development and life of trisomy 13 patients.

Pediatrics international : official journal of the Japan Pediatric Society
2023

Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study.

Congenital anomalies
2022

Young adolescent with trisomy 13.

BMJ case reports
2022

Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening.

Clinical chemistry
2022

Rare autosomal trisomies detected by non-invasive prenatal testing.

European journal of human genetics : EJHG
2022

Karyotype patterns, clinical features, and parental ages of three predominant live born autosomal trisomies of Northeast Malaysia.

The Malaysian journal of pathology
2023

The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis.

American journal of obstetrics and gynecology
2023

Surgical outcomes in children with Trisomy 13: An ACS NSQIP - Pediatric review.

Journal of pediatric surgery
2022

[Analysis of the factors influencing positive predictive value of noninvasive prenatal testing for chromosome aneuploidies].

Zhonghua yi xue za zhi
2022

Misdiagnosis of trisomy 13 and trisomy 18 is more common than anticipated.

American journal of medical genetics. Part A
2023

Clinical spectrum of orbital and ocular abnormalities on fetal MRI.

Pediatric radiology
2021

The Use of Caffeine for Apnoea Associated with Trisomy 13 and Trisomy 18.

Irish medical journal
2022

Maternal MTHFR 677C>T, 1298A>C gene polymorphisms and risk of offspring aneuploidy.

Prenatal diagnosis
2022

A novel heptasomy 21 associated with complete loss of heterozygosity and loss of function RUNX1 mutation in acute myeloid leukemia.

Cancer genetics
2022

Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature.

The Tohoku journal of experimental medicine
2022

Very low birth weight infants with congenital heart disease: A multicenter cohort study in Japan.

Journal of cardiology
2022

An improved deep convolutional neural network architecture for chromosome abnormality detection using hybrid optimization model.

Microscopy research and technique
2022

Clinical characteristics and ophthalmic management of a rare disease cohort of patients with trisomy 13.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2022

Outcomes of 8 Years of Noninvasive Prenatal Testing at Nippon Medical School Hospital.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi
2022

Survival Outcomes of Infants with the Trisomy 13 or Trisomy 18 Syndromes.

The Journal of pediatrics
2022

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.

Genetics in medicine : official journal of the American College of Medical Genetics
2022

Cell-free DNA analysis for noninvasive examination of trisomy: comparing 2 targeted methods.

American journal of obstetrics and gynecology
2022

Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.

Prenatal diagnosis
2023

Neck Extension and Intraocular Pressure Elevation During Palatoplasty in a Patient with Patau Syndrome and Congenital Glaucoma: A Case Report.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2022

The performance of grey zone in common foetal aneuploidy screening by semiconductor sequencing.

Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
2022

Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.

The Journal of pediatrics
2022

Future Perspectives in Oxidative Stress in Trisomy 13 and 18 Evaluation.

Journal of clinical medicine
2022

Controversies in implementing non-invasive prenatal testing in a public antenatal care program.

Acta obstetricia et gynecologica Scandinavica
2022

A study on non-invasive prenatal screening for the detection of aneuploidy.

Ginekologia polska
2022

Implementation of non-invasive prenatal testing within a national UK antenatal screening programme: Impact on women's choices.

Prenatal diagnosis
2022

A machine learning technology to improve the risk of non-invasive prenatal tests.

Technology and health care : official journal of the European Society for Engineering and Medicine
2022

Contingent cfDNA Screening Implementation: Increasing Diagnostic Accuracy and Reducing Invasive Testing - 6 Years' Results in a Single Center.

Fetal diagnosis and therapy
2022

Severe recalcitrant hidradenitis suppurativa in a 2-year-old boy with partial trisomy 13.

Pediatric dermatology
2022

Primary cell-free DNA screening or contingent screening for the common trisomies: a response.

American journal of obstetrics and gynecology
2022

Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure.

Taiwanese journal of obstetrics &amp; gynecology
2022

Morbidity and mortality following noncardiac surgical procedures among children with autosomal trisomy.

Paediatric anaesthesia
2022

Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.

American journal of obstetrics and gynecology
2022

The impact of prenatal screening tests on prenatal diagnosis in Taiwan from 2006 to 2019: a regional cohort study.

BMC pregnancy and childbirth
2022

Cardiac Interventions for Patients With Trisomy 13 and Trisomy 18: Experience, Ethical Issues, Communication, and the Case for Individualized Family-Centered Care.

World journal for pediatric &amp; congenital heart surgery
2022

Improving survival in patients with trisomy 18.

American journal of medical genetics. Part A
2022

Umbilical artery pulsatility index and half-peak systolic velocity in second- and third-trimester fetuses with trisomy 18 and 13.

Journal of perinatal medicine
2021

Clinical Application of Noninvasive Prenatal Testing for Pregnant Women with Assisted Reproductive Pregnancy.

International journal of women's health
2022

Neurosurgical Evaluation and Management of Patients with Chromosomal Abnormalities.

Neurosurgery clinics of North America
2022

Residual risk for clinically significant copy number variants in low-risk pregnancies, following exclusion of noninvasive prenatal screening-detectable findings.

American journal of obstetrics and gynecology
2022

Direct hyperbilirubinemia and cholestasis in trisomy 13 and 18.

American journal of medical genetics. Part A
2021

[Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review].

Archivos peruanos de cardiologia y cirugia cardiovascular
2022

Audit of the first > 7500 noninvasive prenatal aneuploidy tests in a Swiss genetics center.

Archives of gynecology and obstetrics
2021

Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta.

Taiwanese journal of obstetrics &amp; gynecology
2021

[Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Assessment and Clinical Utility of a Non-Next-Generation Sequencing-Based Non-Invasive Prenatal Testing Technology.

Current issues in molecular biology
2021

Diazoxide toxicity with hypoglycemia in infants with trisomy 13.

Pediatrics and neonatology
2021

Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

American journal of perinatology
2021

Mosaic proximal trisomy 13q and regular trisomy 13 in a female patient with long survival: Involvement of an incomplete trisomic rescue and a chromothripsis event.

Molecular genetics &amp; genomic medicine
2021

Identification of Chromosome 17 Trisomy in a Cynomolgus Monkey (Macaca fascicularis) by Multicolor FISH Techniques.

Cytogenetic and genome research
2021

Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.

Taiwanese journal of obstetrics &amp; gynecology
2021

[Progress of research on clinical use of non-invasive prenatal screening for special groups of pregnant women].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Type 1 diabetes mellitus presenting with diabetic ketoacidosis in a child with Patau syndrome (trisomy 13) and persistent fetal haemoglobin.

BMJ case reports
2021

Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs).

Journal of perinatology : official journal of the California Perinatal Association
2021

[Value of chromosomal microarray analysis for the prenatal diagnosis of pregnancy with high risk signaled by non-invasive prenatal testing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies.

Clinical chemistry
2022

Dinosaur Tail Appendix in Trisomy 13.

Fetal and pediatric pathology
2021

Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.

Obstetrics and gynecology
2021

Keratoconus in a child with partial trisomy 13.

Ophthalmic genetics
2021

[Results of non-invasive prenatal testing for 2473 women with twin pregnancy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

[Analysis of the efficacy of non-invasive prenatal testing in the system of prenatal screening and diagnosis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2021

Parent-reported histories of adults with trisomy 13 syndrome.

American journal of medical genetics. Part A
2021

Patterns of congenital anomalies among individuals with trisomy 13 in Texas.

American journal of medical genetics. Part A
2021

Surveillance guidelines for children with trisomy 13.

American journal of medical genetics. Part A
2021

Commentary: Cardiac surgery in children with trisomy 13 and trisomy 18: "Is it the quality of life or the quantity?".

The Journal of thoracic and cardiovascular surgery
2021

Evaluation of repeat testing of a non-sequencing based NIPT test on a Finnish general-risk population.

Acta obstetricia et gynecologica Scandinavica
2021

Correlation of first-trimester thymus size with chromosomal anomalies.

Journal of perinatal medicine
2021

Evaluation of the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center.

Prenatal diagnosis
2021

Observed and Modeled Positive Predictive Values Using Cell-free DNA Testing for Fetal Trisomy in a Clinical Laboratory Population.

Fetal diagnosis and therapy
2021

Noninvasive prenatal screening in twin pregnancies with cell-free DNA using the IONA test: a prospective multicenter study.

American journal of obstetrics and gynecology
2022

Attitudes of Argentinean Neonatologists toward Resuscitation of Infants with Trisomies 21, 18, and 13: A Multicenter Survey.

American journal of perinatology
2021

A validated model for prediction of survival to 6 months in patients with trisomy 13 and 18.

American journal of medical genetics. Part A
2021

Interdisciplinary care of children with trisomy 13 and 18.

American journal of medical genetics. Part A
2021

Clinical Course for Patients With Trisomy 13 and 18 Pursuing Life-Prolonging Therapies Versus Comfort-Directed Care.

The American journal of hospice &amp; palliative care
2022

Discipline-Specific Perspectives on Caring for Babies with Trisomy 13 or 18 in the Neonatal Intensive Care Unit.

American journal of perinatology
2022

The reduced use of invasive procedures leads to a change of frequencies of prenatally detected chromosomal aberrations: population data from the years 2012-2016.

The journal of maternal-fetal &amp; neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
2021

National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017.

Acta obstetricia et gynecologica Scandinavica
2020

Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy.

Taiwanese journal of obstetrics &amp; gynecology
2021

Communicating with parents of children with trisomy 13 or 18 who seek cardiac interventions.

Cardiology in the young
2021

Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany.

Archives of gynecology and obstetrics
2020

Non-invasive prenatal testing for aneuploidy screening.

BMJ (Clinical research ed.)
2021

Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18.

Prenatal diagnosis
2020

Clinical Review of Noninvasive Prenatal Testing: Experience from 551 Pregnancies with Noninvasive Prenatal Testing-Positive Results in a Tertiary Referral Center.

The Journal of molecular diagnostics : JMD
2021

First-trimester presentation of ultrasound findings in trisomy 13 and validation of multiparameter ultrasound-based risk calculation models to detect trisomy 13 in the late first trimester.

Journal of perinatal medicine
2021

Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center.

Prenatal diagnosis
2020

Prenatal screening in the era of non-invasive prenatal testing: a Nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice.

BMC pregnancy and childbirth
2021

Impact of trisomy 13 and 18 on airway anomalies and pulmonary complications after cardiac surgery.

The Journal of thoracic and cardiovascular surgery
2021

The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in Japan.

Journal of human genetics
2020

[Application of non-invasive prenatal testing for the screening of fetal chromosomal abnormalities in 12 085 cases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2020

[Retrospective analysis of 44 578 pregnancies undergoing non-invasive prenatal testing in Weifang].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2020

[Clinical significance of non-invasive prenatal testing in preventing birth defects].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2020

Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making.

Pediatric cardiology
2021

Extending the provision of cell-free DNA screening for trisomy 21.

BJOG : an international journal of obstetrics and gynaecology
2020

Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.

Genetics research
2021

Outcomes After Extracorporeal Life Support Cannulation in Pediatric Patients With Trisomy 13 and Trisomy 18.

The Journal of surgical research
2020

Neonates With Complex Cardiac Malformation and Congenital Diaphragmatic Hernia Born to SARS-CoV-2 Positive Women-A Single Center Experience.

World journal for pediatric &amp; congenital heart surgery
2020

Prenatally Diagnosed Fetal Aneuploidy: Natural History and Subsequent Management.

Irish medical journal
2020

[Genetic study of a trisomy 13 fetus with a false-negative karyotype by chorionic villi analysis].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

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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. Calculation of specific risk of trisomy 13: probably still a utopia.
    Journal of gynecology obstetrics and human reproduction· 2026· PMID 41352483mais citado
  2. Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population-Based Study From Japan.
    American journal of medical genetics. Part A· 2026· PMID 40974038mais citado
  3. Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study.
    European journal of pediatrics· 2025· PMID 41420650mais citado
  4. Cell-free DNA screening for trisomies 21, 18, and 13: Clinical application and accuracy evaluation.
    PloS one· 2025· PMID 41060971mais citado
  5. Long-Term Survival Among Children With Trisomy 13 and Trisomy 18 by Cytogenetic Status.
    JAMA network open· 2025· PMID 40920381mais citado
  6. A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13.
    Clin Case Rep· 2025· PMID 40919399recente
  7. Outcomes of heart surgery in neonates with trisomy 13 and 18: a systematic review with metanalysis.
    Eur J Pediatr· 2025· PMID 40537699recente
  8. Impact of tracheostomies on the long-term survival of patients with trisomy 13 syndrome.
    Am J Med Genet A· 2023· PMID 37658587recente
  9. Application of QF-PCR Technology Combined With Early Pregnancy Ultrasound in Prenatal Screening for Fetal Chromosomal Aneuploidy.
    Altern Ther Health Med· 2023· PMID 37471660recente
  10. Ruptured Sinus of Valsalva Aneurysm Diagnosed on Coronary Computed Tomography Angiography in a Patient With Trisomy 13 Syndrome.
    Tex Heart Inst J· 2023· PMID 37231901recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:3378(Orphanet)
  2. MONDO:0018068(MONDO)
  3. GARD:7341(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q284219(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

Síndrome trissomia 13
Compêndio · Raras BR

Síndrome trissomia 13

ORPHA:3378 · MONDO:0018068
Prevalência
1-5 / 10 000
Herança
Not applicable, Unknown
CID-10
Q91.4 · Trissomia 13, não-disjunção meiótica
CID-11
Ensaios
2 ativos
Início
Antenatal, Neonatal
Prevalência
15.9 (Japan)
MedGen
UMLS
C0152095
EuropePMC
Wikidata
Wikipedia
Papers 10a
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