Raras
Buscar doenças, sintomas, genes...
Síndrome de isocromossomo Yq
ORPHA:98798CID-10 · Q98.6DOENÇA RARA

Isocromossomo Yq é uma alteração rara nos cromossomos sexuais, que se manifesta de formas variadas. Pode incluir um perfil feminino com atraso no desenvolvimento sexual, gônadas pouco desenvolvidas, baixa estatura e características da síndrome de Turner; ou um perfil masculino com infertilidade devido à ausência de espermatozoides (azoospermia).

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Isocromossomo Yq é uma alteração rara nos cromossomos sexuais, que se manifesta de formas variadas. Pode incluir um perfil feminino com atraso no desenvolvimento sexual, gônadas pouco desenvolvidas, baixa estatura e características da síndrome de Turner; ou um perfil masculino com infertilidade devido à ausência de espermatozoides (azoospermia).

🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q98.6
🇧🇷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

📏
Crescimento
3 sintomas
🫘
Rins
1 sintomas

+ 4 sintomas em outras categorias

Características mais comuns

90%prev.
Insuficiência gonadal primária
Muito frequente (99-80%)
90%prev.
Azoospermia
Muito frequente (99-80%)
90%prev.
Tamanho testicular diminuído
Muito frequente (99-80%)
90%prev.
Infertilidade masculina
Muito frequente (99-80%)
55%prev.
Ginecomastia
Frequente (79-30%)
55%prev.
Genitália ambígua
Frequente (79-30%)
8sintomas
Muito frequente (4)
Frequente (3)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.

Insuficiência gonadal primáriaPrimary gonadal insufficiency
Muito frequente (99-80%)90%
Azoospermia
Muito frequente (99-80%)90%
Tamanho testicular diminuídoDecreased testicular size
Muito frequente (99-80%)90%
Infertilidade masculinaMale infertility
Muito frequente (99-80%)90%
GinecomastiaGynecomastia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa11
Últimos 10 anos95publicações
Pico202419 papers
Linha do tempo
20202015Hoje · 2026📈 2024Ano 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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Síndrome de isocromossomo Yq

Centros de Referência SUS

24 centros habilitados pelo SUS para Síndrome de isocromossomo Yq

Centros para Síndrome de isocromossomo Yq

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Intranasal administration of broad-spectrum macrocyclic peptide inhibitor protects against SARS-CoV-2 Omicron variants.

Nature communications2026 Jan 26

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) continues to cause significant morbidity and mortality despite the end of its pandemic phase. The emergence of highly mutated SARS-CoV-2 variants of concern highlights the requirement of broad-spectrum antiviral countermeasures which possess both prophylactic and therapeutic efficacies. Here, we obtain a macrocyclic peptide, 6L3-3P11K, that effectively inhibits a wide range of SARS-CoV-2 variants and subvariants. Structural studies show that 6L3-3P11K forms homotrimers that lock the spike protein (S) trimer into a "closed" conformation by engaging a conserved non-receptor binding motif (non-RBM) of S. This interaction disrupts the binding between S and ACE2 receptor. Structure-guided modifications result in a thermostable and trypsin-resistant macrocyclic peptide, 6L3-1F3P11hR, that exhibits prophylactic and therapeutic effects against SARS-CoV-2 infection in a male hACE2 transgenic mouse model after intranasal administration. Our results provide a drug candidate for the control and prevention of COVID-19 and may stimulate further research on macrocyclic broad-spectrum anti-coronavirus drug development.

#2

Developing a Core Outcome Set for Clinical Trials of Traditional Chinese Medicine for Lumbar Disc Herniation.

Journal of evidence-based medicine2026 Jan 29

Traditional Chinese medicine (TCM) is widely used in managing lumbar disc herniation (LDH), but heterogeneous outcome reporting in its trials hinders evidence synthesis. This study intends to develop a core outcome set (COS) for TCM-LDH to standardize reporting and improve research quality. Candidate outcomes were identified via a systematic review of TCM-related randomized controlled trials (RCTs) for LDH, with studies retrieved from multiple databases between January 1 2019 and December 31 2023 and supplemented by clinical trial registry searches. Semistructured interviews with LDH patients and clinician questionnaires were conducted to refine candidate outcomes. Two Delphi rounds were carried out among clinicians, pharmaceutical researchers, journal editors, methodologists, and patients, followed by an online-offline consensus meeting to finalize the COS. A candidate outcome pool was established via a systematic review (413 RCTs, 51 registered studies), 30 LDH patient interviews, and 73 clinician surveys. After integration, deduplication, and steering committee refinement, two rounds of Delphi surveys were conducted. Following a consensus meeting attended by 24 multidisciplinary experts, 7 core outcomes were finalized for LDH: lumbar dysfunction, pain/discomfort, recurrence rate, straight leg raise angle, adverse reactions/adverse events, TCM syndromes, and sciatica frequency. The developed COS for TCM-related LDH clinical trials provides standardized recommendations for outcome selection and reporting, which can enhance the consistency of research evidence, facilitate meta-analysis, and ultimately advance the quality of TCM-based interventions for LDH.

#3

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

Journal of cosmetic dermatology2026 Jan

Keratosis pilaris (KP) is a common follicular keratotic skin disorder characterized by follicular papules and skin roughness, often accompanied by itching and inflammation, significantly affecting appearance and psychological health. This 28-day prospective, open-label, randomized controlled study evaluated the effectiveness of a novel combined formula for KP treatment. The formula included a scrub (Olea europaea shell powder, hydrated silica, and papain) and a moisturizing lotion with plant oils (peony seed oil, oat kernel oil, and rice bran oil). Sixty KP patients aged 18-35 were randomly assigned to a control group (salicylic acid body lotion) or a study group (combined formula), with 30 participants each. Evaluations included follicular papule counts, transepidermal water loss (TEWL), and depression scale scores at baseline (D0), day 7 (D7), day 14 (D14), day 21 (D21), and day 28 (D28). After D28, a self-assessment questionnaire was used to compare treatment outcomes. According to the repeated-measures ANOVA, the control and study group had a significant reduction in follicular papule counts over time (all p < 0.05). For TEWL values, a significant simple effect of time was observed in the study group (p = 0.026), whereas the control group showed only a marginal change (p = 0.054). Despite the absence of a significant main group effect (p = 0.287), these results suggest that the study group achieved a greater overall improvement in skin barrier function over time. In the self-assessment, 21 out of 23 indicators had higher effectiveness rates in the study group than the control group, with 96.7% effectiveness in improving skin dryness, smoothness, roughness, freshness, oiliness, and oil control. Depression scale scores were significantly affected by both time and group (p = 0.017 and p = 0.008, respectively), indicating psychological improvement after 28 days. The combined formula effectively reduced follicular papules, improved skin hydration, decreased TEWL, and alleviated depressive symptoms in KP patients.

#4

Implementing Pediatric Palliative Care in Vietnam: Initial Experiences and Lessons.

Journal of pain and symptom management2026 Mar

There remains an enormous unmet need for pediatric palliative care (PPC), especially in low- and middle-income countries (LMICs). Evaluation of existing PPC programs can inform development of emerging programs. In 2017, a PPC program was established at a major children's hospital in Vietnam, a lower-middle-income country where palliative care development is at an early stage. We describe the development and operations of the first PPC program in Vietnam, and evaluate the program's scope and early outcomes. We conducted a retrospective cross-sectional study of all patients seen by the PPC inpatient consult service within an 18-month period. Descriptive statistics were used to identify trends in demographics, clinical characteristics, and end-of-life outcomes. Among 169 children (aged 0-15.6 years) who received PPC consultation, the most common diagnoses were cancer, traumatic injury, and congenital syndromes. Patients were referred by 14 different hospital departments. Psychosocial support was the most common PPC intervention (70%), while pain management was provided for 28% of patients. None of the patients with cancer died in the hospital. By partnering with hospital leadership, creating opportunities for staff education, and adapting to the cultural and geographic setting, the PPC team overcame initial challenges to become a widely utilized, high-volume consult service. The PPC program may have reduced use of chemotherapy and cardiopulmonary resuscitation at end of life. The program's strengths, challenges, and experiences may inform the development of emerging PPC programs in other LMICs.

#5

Guideline-directed medical therapy and in-hospital mortality in acute coronary syndrome patients with advanced renal dysfunction: analysis of two nationwide retrospective cohort studies.

BMJ open2025 Aug 26

The purpose of this study was to verify whether guideline-directed medical therapy (GDMT, ie, the combined use of β-blocker, ACE inhibitor/angiotensin receptor blocker, dual antiplatelet drugs and statin) could improve in-hospital mortality in acute coronary syndrome (ACS) patients with advanced renal dysfunction (estimated glomerular filtration rate (eGFR) < 30 mL/min/1.73 m2). Retrospective cohort study. This study used data from two large, multicentre, observational cohorts: the Chinese National Electronic Disease Surveillance System Platform (CNEDSSP) and the Improving Care for Cardiovascular Disease in China-ACS (CCC-ACS) project. These cohorts consist of ACS patients admitted to 47 and 241 hospitals, respectively, across China from 2014 to 2019. A total of 6260 patients diagnosed with advanced renal dysfunction (eGFR <30 mL/min/1.73 m²) on admission were included in the analysis. Among these, 3013 patients were from the CNEDSSP cohort and 3247 from the CCC-ACS cohort. Patients were categorised based on receipt of GDMT within 24 hours of admission. The main exposure measure was the early use of GDMT, defined as the administration of all four components of GDMT within 24 hours of hospital admission. The primary outcome was in-hospital mortality, assessed within the study cohort. In a pooled analysis of the CNEDSSP and CCC-ACS cohorts, early GDMT was associated with a significant reduction in in-hospital mortality (relative risk (RR): 0.62, 95% CI: 0.47 to 0.81). More pronounced reductions were observed in myocardial infarction (MI) patients, with HRs of 0.31 (95% CI: 0.17 to 0.55) in the CNEDSSP cohort and 0.47 (95% CI: 0.28 to 0.77) in the CCC-ACS cohort. A random-effects pooled analysis of MI patients with advanced renal dysfunction at admission showed a 61% reduction in in-hospital mortality among GDMT users (RR: 0.39, 95% CI: 0.27 to 0.58). This nationwide study highlights that early GDMT is associated with a reduced risk of in-hospital mortality in ACS patients (particularly in MI patients) with advanced renal dysfunction.

Publicações recentes

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📚 EuropePMCmostrando 95

2025

[Genetic analysis of a child with Oculo-facio-cardio-dental syndrome due to a deletional variant of BCOR gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Developing a Core Outcome Set for Clinical Trials of Traditional Chinese Medicine for Lumbar Disc Herniation.

Journal of evidence-based medicine
2026

Intranasal administration of broad-spectrum macrocyclic peptide inhibitor protects against SARS-CoV-2 Omicron variants.

Nature communications
2026

An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.

Journal of cosmetic dermatology
2025

Weight-adjusted waist index outperforms other obesity indices for cardiovascular disease prediction in cardiovascular-kidney-metabolic syndrome: insights from UK biobank.

BMC public health
2025

Efficacy and safety of tangweian recipe in the treatment of diabetic gastroparesis: a protocol for a non-inferiority, double-blind, active drug, randomized controlled clinical trial.

BMC complementary medicine and therapies
2026

Implementing Pediatric Palliative Care in Vietnam: Initial Experiences and Lessons.

Journal of pain and symptom management
2025

Development of a trispecific fusion protein based on angiotensin-converting enzyme 2, glycoprotein 130, and tumor necrosis factor receptor 2 as a promising therapeutic for COVID-19.

Molecular biomedicine
2025

Guideline-directed medical therapy and in-hospital mortality in acute coronary syndrome patients with advanced renal dysfunction: analysis of two nationwide retrospective cohort studies.

BMJ open
2025

Glycan shielding enables TCR-sufficient allogeneic CAR-T therapy.

Cell
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Social Determinants of Health and Risk for Long COVID in the U.S. RECOVER-Adult Cohort.

Annals of internal medicine
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Fast, cost-effective and flexible DNA sequencing by roll-to-roll fluidics.

Nature methods
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Polydatin exerts therapeutic effects on myelodysplastic syndrome by inhibiting the protein expression of oncogenes via hypermethylation in vitro.

Scientific reports
2025

Effect of add-on therapy with Traditional Chinese Medicine on the survival of patients with anemic lower-risk myelodysplastic syndromes in the real-world setting: a retrospective study.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2025

Double Trouble: Coronary Aneurysm and Löffler Endocarditis in Hypereosinophilic Syndrome.

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MYSM1 Mediates Cardiac Parthanatos and Hypertrophy by Deubiquitinating PARP1.

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2024

Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients.

Frontiers in reproductive health
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Tryptophan Ameliorates Metabolic Syndrome by Inhibiting Intestinal Farnesoid X Receptor Signaling: The Role of Gut Microbiota-Bile Acid Crosstalk.

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Targeting viral suppressor of RNAi confers anti-coronaviral activity.

Molecular therapy : the journal of the American Society of Gene Therapy
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Utility of overnight oximetry indices in the evaluation of children with snoring and suspected obstructive sleep apnea.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
2024

[Intervention of traditional Chinese patent medicine based on syndrome differentiation in female patients after percutaneous coronary intervention due to acute coronary syndrome: a nationwide multicenter prospective cohort study].

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2024

Development of a biomarker prediction model for post-trauma multiple organ failure/dysfunction syndrome based on the blood transcriptome.

Annals of intensive care
2024

Neurologic manifestations of Long COVID in Colombia: a comparative analysis of post-hospitalization vs. non-hospitalized patients.

Frontiers in human neuroscience
2024

Buyang Huanwu decoction ameliorates myocardial injury and attenuates platelet activation by regulating the PI3 kinase/Rap1/integrin α(IIb)β(3) pathway.

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2024

Microfluidics-enabled mesenchymal stem cell derived Neuron like cell membrane coated nanoparticles inhibit inflammation and apoptosis for Parkinson's Disease.

Journal of nanobiotechnology
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S1PR3 inhibition protects against LPS-induced ARDS by inhibiting NF-κB and improving mitochondrial oxidative phosphorylation.

Journal of translational medicine
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Vessel Wall Imaging Features of Spontaneous Intracranial Carotid Artery Dissection.

Neurology
2024

Association between metabolic syndrome and kidney cancer risk: a prospective cohort study.

Lipids in health and disease
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Metabolomic profiles of sleep-disordered breathing are associated with hypertension and diabetes mellitus development.

Nature communications
2024

Single-Cell Transcriptomics Reveals the Ameliorative Effect of Oridonin on Septic Liver Injury.

Advanced biology
2024

The potential role of the triglyceride-glucose index in left ventricular systolic function and in-hospital outcomes for patients with acute myocardial infarction.

Archives of cardiovascular diseases
2024

A phase 1/2 clinical trial of invariant natural killer T cell therapy in moderate-severe acute respiratory distress syndrome.

Nature communications
2024

SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death.

Gene
2023

Preliminary Application of a Continuous Functional Contrast Visual Acuity System in the Assessment of Visual Function in Dry Eye Patients.

Translational vision science &amp; technology
2024

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

The Lancet. Child &amp; adolescent health
2023

Bloodletting puncture in the treatment of acute ischemic stroke: protocol for a mixed-method study of a multi-center randomized controlled trial and focus group.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2023

Effect of Naoluoxintong formula and its split prescriptions on cerebral vascular regeneration in rats with the cerebral ischemia-reperfusion.

Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan
2024

Mucosa-Associated Microbiota Dysbiosis in the Terminal Ileum Correlates With Bowel Symptoms in Diarrhea-Predominant Irritable Bowel Syndrome.

Clinical and translational gastroenterology
2023

Willingness of people living with HIV to receive a second COVID-19 booster dose: a multicenter cross-sectional study in China.

Frontiers in public health
2023

High-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissues.

Taiwanese journal of obstetrics &amp; gynecology
2023

Residual Risk in Non-ST-Segment Elevation Acute Coronary Syndrome: Quantitative Plaque Analysis at Coronary CT Angiography.

Radiology
2023

Isolation, identification, and pathogenicity of a NADC30-like porcine reproductive and respiratory disorder syndrome virus strain affecting sow production.

Frontiers in veterinary science
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Knowledge landscapes and emerging trends of cardiorenal syndrome type 4: a bibliometrics and visual analysis from 2004 to 2022.

International urology and nephrology
2023

Long-term outcomes of relmacabtagene autoleucel in Chinese patients with relapsed/refractory large B-cell lymphoma: Updated results of the RELIANCE study.

Cytotherapy
2023

Absence of CEP78 causes photoreceptor and sperm flagella impairments in mice and a human individual.

eLife
2023

Safety and immunogenicity of a mosaic vaccine booster against Omicron and other SARS-CoV-2 variants: a randomized phase 2 trial.

Signal transduction and targeted therapy
2022

45,X male - rare case of unbalanced translocation of Y chromosome to chromosome 2 presenting with developmental delay, learning difficulty and obesity.

Endocrinology, diabetes &amp; metabolism case reports
2024

Association Between Platelet Glycoprotein IIb/IIIa Inhibition and In-Hospital Outcomes in ST-Elevation Myocardial Infarction Patients Treated with Coronary Thrombus Aspiration: Findings from the CCC-ACS Project.

Cardiovascular drugs and therapy
2022

Cost-Effectiveness of Intensive Versus Standard Blood Pressure Treatment in Older Patients With Hypertension in China.

Hypertension (Dallas, Tex. : 1979)
2022

Area Postrema Syndrome in Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy: A Case Series and Literature Review.

Neurology(R) neuroimmunology &amp; neuroinflammation
2022

Early Statin Therapy and In-Hospital Outcomes in Acute Coronary Syndrome Patients Presenting with Advanced Killip Class at Admission: Findings from the CCC-ACS Project.

American journal of cardiovascular drugs : drugs, devices, and other interventions
2022

Surface code for low-density qubit array.

Scientific reports
2022

Oral pharmacological treatments for chronic prostatitis/chronic pelvic pain syndrome: A systematic review and network meta-analysis of randomised controlled trials.

EClinicalMedicine
2022

Complex rearrangements of Y chromosome suggest RPS4Y1 as lymphedema candidate gene.

Taiwanese journal of obstetrics &amp; gynecology
2022

Association of Periodic Limb Movements With Medication Classes: A Retrospective Cohort Study.

Neurology
2023

Early Guideline-Directed Medical Therapy and in-Hospital Major Bleeding Risk in ST-Elevation Myocardial Infarction Patients Treated with Percutaneous Coronary Intervention: Findings from the CCC-ACS Project.

Cardiovascular drugs and therapy
2021

Identification of genomic imbalances (CNVs as well as LOH) in sertoli cell only syndrome cases through cytoscan microarray.

Gene
2021

[Genetic analysis of two couples with a history of multiple fetal malformations].

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

Gray matter abnormalities in Tourette Syndrome: a meta-analysis of voxel-based morphometry studies.

Translational psychiatry
2021

Detection of AZF microdeletions and reproductive hormonal profile analysis of infertile sudanese men pursuing assisted reproductive approaches.

BMC urology
2021

Y-microdeletions: a review of the genetic basis for this common cause of male infertility.

Translational andrology and urology
2021

Genetic Association Between Hypoplastic Left Heart Syndrome and Cardiomyopathies.

Circulation. Genomic and precision medicine
2020

Intra-individual Genomic Variation Analysis in Tissues (Blood vs. Testis) Through SNP Microarray: A Case Report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS).

Journal of reproduction &amp; infertility
2020

Patient-Specific Induced Pluripotent Stem Cells Implicate Intrinsic Impaired Contractility in Hypoplastic Left Heart Syndrome.

Circulation
2020

Probable Evidence of Fecal Aerosol Transmission of SARS-CoV-2 in a High-Rise Building.

Annals of internal medicine
2021

Time for a Fully Integrated Nonclinical-Clinical Risk Assessment to Streamline QT Prolongation Liability Determinations: A Pharma Industry Perspective.

Clinical pharmacology and therapeutics
2020

Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia- From Genetics to Clinical Practice.

Case reports in endocrinology
2021

Obstructive sleep apnea syndrome and risk of renal impairment: a systematic review and meta-analysis with trial sequential analysis.

Sleep &amp; breathing = Schlaf &amp; Atmung
2020

Prevalence of Brugada Syndrome in a Large Population of Young Singaporean Men.

Circulation
2021

A Case of a Derivative Chromosome: der(Y)t(Y;18)Pat with Congenital Abnormalities.

Fetal and pediatric pathology
2020

miRNA-Mediated Suppression of a Cardioprotective Cardiokine as a Novel Mechanism Exacerbating Post-MI Remodeling by Sleep Breathing Disorders.

Circulation research
2019

Y chromosome microdeletions screening in Tunisian infertile men.

Annales de biologie clinique
2019

[Analysis of HINT1 gene variant in a case with neuromyotonia and axonal neuropathy].

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

Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience.

Andrology
2019

LncRNA Rik-203 contributes to anesthesia neurotoxicity via microRNA-101a-3p and GSK-3β-mediated neural differentiation.

Scientific reports
2018

[Comparison of lung protection for hydrochloric acid or oleic acid induced rat acute respiratory distress syndrome models pretreated with penehyclidine].

Zhonghua wei zhong bing ji jiu yi xue
2017

mTOR (Mechanistic Target of Rapamycin) Inhibition Decreases Mechanosignaling, Collagen Accumulation, and Stiffening of the Thoracic Aorta in Elastin-Deficient Mice.

Arteriosclerosis, thrombosis, and vascular biology
2017

Transient Notch Activation Induces Long-Term Gene Expression Changes Leading to Sick Sinus Syndrome in Mice.

Circulation research
2017

Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.

Hormone research in paediatrics
2017

46,XX males: a case series based on clinical and genetics evaluation.

Andrologia
2017

Treatment of spontaneous esophageal rupture with transnasal thoracic drainage and temporary esophageal stent and jejunal feeding tube placement.

The journal of trauma and acute care surgery
2016

Fresh versus Frozen Embryos for Infertility in the Polycystic Ovary Syndrome.

The New England journal of medicine
2016

[Clinical study of metabolic cart guiding nutritional support therapy in patients with multiple organ dysfunction syndrome].

Zhonghua wei zhong bing ji jiu yi xue
2016

Antiretroviral Therapy for the Prevention of HIV-1 Transmission.

The New England journal of medicine
2016

Adding up cranial nerves to localize the lesion: eight-and-a-half syndrome.

QJM : monthly journal of the Association of Physicians
2016

Prognostic Value of Plasma Intermedin Level in Patients With Non-ST-Segment Elevation Acute Coronary Syndrome.

Medicine
2016

Calcineurin Inhibitors Associated Posterior Reversible Encephalopathy Syndrome in Solid Organ Transplantation: Report of 2 Cases and Literature Review.

Medicine
2016

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.

BioMed research international
2015

Chromosomal Abnormalities in Infertile Men from Southern India.

Journal of clinical and diagnostic research : JCDR
2015

A Retrospective Analysis of 7 Human Immunodeficiency Virus-Negative Infants Infected by Penicillium marneffei.

Medicine
2015

Exposure to fine airborne particulate matters induces hepatic fibrosis in murine models.

Journal of hepatology
2015

Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction.

Circulation. Cardiovascular genetics
2015

Pathogenesis of the Novel Autoimmune-Associated Long-QT Syndrome.

Circulation
2015

Kawasaki disease mimicking a parapharyngeal abscess: a case report.

Medicine
2015

Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences.

Molecular cytogenetics

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Intranasal administration of broad-spectrum macrocyclic peptide inhibitor protects against SARS-CoV-2 Omicron variants.
    Nature communications· 2026· PMID 41587975mais citado
  2. Developing a Core Outcome Set for Clinical Trials of Traditional Chinese Medicine for Lumbar Disc Herniation.
    Journal of evidence-based medicine· 2026· PMID 41611616mais citado
  3. An Innovative Formula for Keratosis Pilaris Treatment-A Randomized Controlled Study Based on the "Exfoliation-Dissolution-Repair" Concept.
    Journal of cosmetic dermatology· 2026· PMID 41439609mais citado
  4. Implementing Pediatric Palliative Care in Vietnam: Initial Experiences and Lessons.
    Journal of pain and symptom management· 2026· PMID 41232623mais citado
  5. Guideline-directed medical therapy and in-hospital mortality in acute coronary syndrome patients with advanced renal dysfunction: analysis of two nationwide retrospective cohort studies.
    BMJ open· 2025· PMID 40858368mais citado
  6. Area Postrema Syndrome in Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy: A Case Series and Literature Review.
    Neurol Neuroimmunol Neuroinflamm· 2022· PMID 36163176recente
  7. Adding up cranial nerves to localize the lesion: eight-and-a-half syndrome.
    QJM· 2016· PMID 27318368recente
  8. Search for subtelomeric imbalances by multiplex ligation-dependent probe amplification in Silver-Russell syndrome.
    Genet Test· 2008· PMID 18307383recente
  9. Functional disomy of Xp including duplication of DAX1 gene with sex reversal due to t(X;Y)(p21.2;p11.3).
    Am J Med Genet A· 2004· PMID 15216557recente
  10. Molecular study on Y chromosome microdeletions in Egyptian males with idiopathic infertility.
    Asian J Androl· 2004· PMID 15064835recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:98798(Orphanet)
  2. MONDO:0020305(MONDO)
  3. GARD:19580(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55789294(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

Compêndio · Raras BR

Síndrome de isocromossomo Yq

ORPHA:98798 · MONDO:0020305
CID-10
Q98.6 · Homem com cromossomos sexuais de estrutura anormal
Início
Adolescent, Adult
MedGen
UMLS
C4749291
Wikidata
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