Les soins palliatifs sont-ils nécessaires pour les anomalies chromosomiques ?
Dans certains cas graves, des soins palliatifs peuvent être nécessaires pour améliorer la qualité de vie.
Soins palliatifsQualité de vie
Complications
5
#1
Quelles complications peuvent survenir avec des anomalies du chromosome 1 ?
Les complications incluent des troubles de la croissance, des malformations et des retards de développement.
Troubles de la croissanceRetards de développement
#2
Les anomalies chromosomiques augmentent-elles le risque de cancer ?
Certaines anomalies peuvent être associées à un risque accru de certains types de cancer.
Risque de cancerAnomalies chromosomiques
#3
Les problèmes cardiaques sont-ils fréquents avec des anomalies chromosomiques ?
Oui, des malformations cardiaques peuvent être associées à des anomalies sur le chromosome 1.
Malformations cardiaquesAnomalies chromosomiques
#4
Les troubles neurologiques sont-ils liés au chromosome 1 ?
Oui, des anomalies sur le chromosome 1 peuvent entraîner divers troubles neurologiques.
Troubles neurologiquesAnomalies chromosomiques
#5
Les complications psychologiques sont-elles possibles ?
Oui, des troubles psychologiques peuvent survenir en raison de l'impact des anomalies chromosomiques.
Troubles psychologiquesAnomalies chromosomiques
Facteurs de risque
5
#1
Quels sont les facteurs de risque pour les anomalies du chromosome 1 ?
L'âge maternel avancé et des antécédents familiaux d'anomalies chromosomiques sont des facteurs de risque.
Âge maternelAntécédents familiaux
#2
L'exposition à des toxines influence-t-elle les anomalies chromosomiques ?
Oui, l'exposition à certaines toxines environnementales peut augmenter le risque d'anomalies.
Toxines environnementalesAnomalies chromosomiques
#3
Les infections pendant la grossesse sont-elles un risque ?
Certaines infections, comme la rubéole, peuvent augmenter le risque d'anomalies chromosomiques.
InfectionsRubéole
#4
Le tabagisme maternel est-il un facteur de risque ?
Oui, le tabagisme pendant la grossesse est associé à un risque accru d'anomalies chromosomiques.
TabagismeAnomalies chromosomiques
#5
Les maladies chroniques de la mère influencent-elles les anomalies ?
Oui, des maladies comme le diabète peuvent augmenter le risque d'anomalies chromosomiques.
Maladies chroniquesDiabète
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"name": "L'alimentation peut-elle influencer les anomalies chromosomiques ?",
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"@type": "Question",
"name": "Quels traitements existent pour les anomalies du chromosome 1 ?",
"position": 16,
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"@type": "Question",
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"@type": "Question",
"name": "Comment gérer les troubles cognitifs liés au chromosome 1 ?",
"position": 19,
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"@type": "Question",
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"@type": "Question",
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"@type": "Question",
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}
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}
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}
},
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"@type": "Answer",
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}
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"name": "Les maladies chroniques de la mère influencent-elles les anomalies ?",
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"@type": "Answer",
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}
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}
]
}
Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Publications dans "Chromosomes humains de la paire 1" :
Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Publications dans "Chromosomes humains de la paire 1" :
Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. adam.phillippy@nih.gov.
Publications dans "Chromosomes humains de la paire 1" :
Jiangsu Key Laboratory of Crop Genomics and Molecular Breeding/Key Laboratory of Plant Functional Genomics of the Ministry of Education, Jiangsu Co-Innovation Center for Modern Production Technology of Grain Crops, Yangzhou University, Yangzhou 225009, China.
Publications dans "Chromosomes humains de la paire 1" :
State Key Lab of Plant Genomics, Institute of Genetics and Developmental Biology, Innovation Academy for Seed Design, Chinese Academy of Sciences, 100101 Beijing, China.
Publications dans "Chromosomes humains de la paire 1" :
State Key Lab of Plant Genomics, Institute of Genetics and Developmental Biology, Innovation Academy for Seed Design, Chinese Academy of Sciences, 100101 Beijing, China.
Publications dans "Chromosomes humains de la paire 1" :
State Key Lab of Plant Genomics, Institute of Genetics and Developmental Biology, Innovation Academy for Seed Design, Chinese Academy of Sciences, 100101 Beijing, China.
Publications dans "Chromosomes humains de la paire 1" :
State Key Lab of Plant Genomics, Institute of Genetics and Developmental Biology, Innovation Academy for Seed Design, Chinese Academy of Sciences, 100101 Beijing, China.
Publications dans "Chromosomes humains de la paire 1" :
Jiangsu Key Laboratory of Crop Genomics and Molecular Breeding/Key Laboratory of Plant Functional Genomics of the Ministry of Education, Jiangsu Co-Innovation Center for Modern Production Technology of Grain Crops, Yangzhou University, Yangzhou 225009, China.
Publications dans "Chromosomes humains de la paire 1" :
Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73117, USA.
Publications dans "Chromosomes humains de la paire 1" :
Copy number variants (CNVs) are a major contribution to genome variability, and the presence of CNVs on chromosome 1 is a known cause of morbidity. The main objective of this study was to contribute t...
Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penet...
Gout is a highly hereditary disease, but not all those carrying well-known risk variants have developing gout attack even in hyperuricemia status. We performed a genome-wide association study (GWAS) a...
GWAS was performed to identify variants associated with gout/AH compared with normouricemia. The participants were males, enrolled from the Taiwan Biobank and China Medical University, and divided int...
The genes ABCG2 and SLC2A9 were found as the major genetic factors governing gouty and AH, and even in those carrying the rs2231142 (ABCG2) wild-genotype. Surprisingly, variants on chromosome 1, such ...
We found new variants on chromosome 1 significantly relating to gout, and PRS predicts the risk of developing gout/AH more robustly based on the SNPs' effect types on the trait....
In the spectrum of oncocytic renal neoplasms, a subset of tumors with high-grade-appearing histologic features harboring pathogenic mutations in mammalian target of rapamycin (mTOR) and hitherto clini...
Chromosome 1 abnormalities in multiple myeloma (MM) are increasingly recognized as high risk-defining features. The authors report the prognostic value of del(1p13.3) by fluorescence in situ hybridiza...
FISH probes were generated from specific BAC DNA clones for the AHCYL1 gene locus (1p13.3) and the CKS1B locus (1q21)....
A total of 1133 patients were included in this analysis. Although del(1p13.3) was detected in 220 (19.4%) patients, 1q21gain or 1q21amp were observed in 300 (26.5%) and 150 (13.2%) patients, respectiv...
The PFS and OS of patients with combined abnormalities of del (1p13.3)/1q21gain or amp was significantly worse compared to del(1p13.3) alone and 1q21gain or 1q21 amp alone, which identifies a subset o...
Genetic 1p deletion is reported in 30% of all neuroblastoma and is associated with the unfavorable prognosis of neuroblastoma. The expressions and prognosis of 1p candidate genes in neuroblastoma are ...
Public neuroblastoma cohorts were obtained for secondary analysis. The prognosis of 1p candidate genes in neuroblastoma was determined using Kaplan-Meier and cox regression analysis. The prediction of...
First, we confirmed the bad prognosis of 1p deletion in neuroblastoma. Moreover, zinc finger protein 436 (ZNF436) located at 1p36 region was down-regulated in 1p deleted neuroblastoma and higher ZNF43...
Chromosome 1p36 candidate gene ZNF436 was a prognostic maker of neuroblastoma....
Complete deletion of both the short arm of chromosome 1 (1p) and the long arm of chromosome 19 (19q), known as 1p/19q codeletion, is a mutation that can occur in gliomas. It occurs in a type of glioma...
To estimate the sensitivity and specificity and cost-effectiveness of different deoxyribonucleic acid (DNA)-based techniques for determining 1p/19q codeletion status in glioma....
We searched MEDLINE, Embase and BIOSIS up to July 2019. There were no restrictions based on language or date of publication. We sought economic evaluation studies from the results of this search and u...
We included cross-sectional studies in adults with glioma or any subtype of glioma, presenting raw data or cross-tabulations of two or more DNA-based tests for 1p/19q codeletion. We also sought econom...
We followed procedures outlined in the Cochrane Handbook for Diagnostic Test Accuracy Reviews. Two review authors independently screened titles/abstracts/full texts, performed data extraction, and und...
We included 53 studies examining: PCR-based LOH, FISH, single nucleotide polymorphism (SNP) array, next-generation sequencing (NGS), comparative genomic hybridisation (CGH), array comparative genomic ...
In our review, most techniques (except G-banding) appeared to have good sensitivity (few false negatives) for detection of 1p/19q codeletions in glioma against both FISH and PCR-based LOH as a referen...
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disorder in neonates due to heterozygous loss-of-function of the mesenchymal transcriptio...
Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions,...
Hereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth de...
The results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may in...