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Phénomènes génétiques
Variation génétique
Mutation
Aberrations des chromosomes
Isochromosomes
Isochromosomes : Questions médicales fréquentes
Termes MeSH sélectionnés :
Anaphase-Promoting Complex-Cyclosome
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"name": "Comment diagnostiquer un isochromosome ?",
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"text": "Le diagnostic se fait par analyse chromosomique, souvent via un caryotype."
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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
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"text": "Les tests incluent l'hybridation in situ et le séquençage de l'ADN."
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"@type": "Question",
"name": "Les isochromosomes sont-ils visibles en microscopie ?",
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"text": "Oui, ils peuvent être identifiés par microscopie après coloration des chromosomes."
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"text": "L'échographie peut détecter des anomalies congénitales associées aux isochromosomes."
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"@type": "Question",
"name": "Les tests prénataux peuvent-ils détecter les isochromosomes ?",
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"text": "Oui, des tests comme l'amniocentèse peuvent révéler des isochromosomes."
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"@type": "Question",
"name": "Quels sont les symptômes des isochromosomes ?",
"position": 6,
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"@type": "Question",
"name": "Les isochromosomes causent-ils des troubles mentaux ?",
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"acceptedAnswer": {
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"text": "Ils peuvent être associés à des troubles du développement intellectuel."
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"name": "Y a-t-il des symptômes physiques spécifiques ?",
"position": 8,
"acceptedAnswer": {
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"text": "Des anomalies physiques comme des malformations cardiaques peuvent survenir."
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"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'isochromosome ?",
"position": 9,
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"@type": "Question",
"name": "Les isochromosomes affectent-ils la croissance ?",
"position": 10,
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{
"@type": "Question",
"name": "Peut-on prévenir les isochromosomes ?",
"position": 11,
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}
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{
"@type": "Question",
"name": "Le dépistage prénatal aide-t-il à prévenir les isochromosomes ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le dépistage prénatal peut identifier les risques, mais ne prévient pas les isochromosomes."
}
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{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de troubles chromosomiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie affectent-elles le risque d'isochromosomes ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines habitudes peuvent influencer la santé génétique, mais pas directement les isochromosomes."
}
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 15,
"acceptedAnswer": {
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"text": "Oui, ils aident à évaluer le risque et à informer les familles sur les options."
}
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{
"@type": "Question",
"name": "Quel traitement est recommandé pour les isochromosomes ?",
"position": 16,
"acceptedAnswer": {
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"text": "Le traitement est symptomatique et peut inclure des thérapies de soutien."
}
},
{
"@type": "Question",
"name": "Les interventions chirurgicales sont-elles nécessaires ?",
"position": 17,
"acceptedAnswer": {
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"text": "Des interventions peuvent être nécessaires pour corriger des malformations physiques."
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"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques pour traiter les isochromosomes ?",
"position": 18,
"acceptedAnswer": {
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"text": "Il n'existe pas de médicaments spécifiques, le traitement est symptomatique."
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{
"@type": "Question",
"name": "Comment la thérapie physique aide-t-elle ?",
"position": 19,
"acceptedAnswer": {
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"text": "La thérapie physique peut améliorer la motricité et le développement physique."
}
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{
"@type": "Question",
"name": "Les soins psychologiques sont-ils nécessaires ?",
"position": 20,
"acceptedAnswer": {
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"text": "Oui, un soutien psychologique peut être bénéfique pour les patients et les familles."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec les isochromosomes ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des malformations congénitales et des troubles de la croissance."
}
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{
"@type": "Question",
"name": "Les isochromosomes augmentent-ils le risque de cancer ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent un lien entre isochromosomes et risque accru de cancer."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications à long terme ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications à long terme peuvent inclure des retards de développement et des troubles mentaux."
}
},
{
"@type": "Question",
"name": "Les complications varient-elles selon le type d'isochromosome ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications dépendent du chromosome affecté et de la gravité des anomalies."
}
},
{
"@type": "Question",
"name": "Les soins médicaux réguliers sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier est essentiel pour gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque des isochromosomes ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'âge maternel avancé et des antécédents familiaux de troubles chromosomiques."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent que l'exposition à des toxines peut augmenter le risque."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse influencent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections peuvent affecter le développement chromosomique du fœtus."
}
},
{
"@type": "Question",
"name": "Les traitements médicaux pendant la grossesse sont-ils un risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains traitements peuvent avoir des effets sur le développement chromosomique."
}
},
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"@type": "Question",
"name": "Le mode de vie maternel influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le mode de vie, y compris l'alimentation et le stress, peut influencer le risque."
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Chromosome compaction is a key feature of mitosis and critical for accurate chromosome segregation. However, a precise quantitative analysis of chromosome geometry during mitotic progression is lackin...
The localization of condensin along chromosomes is crucial for their accurate segregation in anaphase. Condensin is enriched at telomeres but how and for what purpose had remained elusive. Here, we sh...
Kinetoplastids are a highly divergent lineage of eukaryotes with unusual mechanisms for regulating gene expression. We previously surveyed 65 putative chromatin factors in the kinetoplastid...
Persisting replication intermediates can confer mitotic catastrophe. Loss of the fission yeast telomere protein Taz1 (ortholog of mammalian TRF1/TRF2) causes telomeric replication fork (RF) stalling a...
Ring chromosomes are known in many eukaryotic organisms, including humans. They are typically associated with a variety of maladies, including abnormal development and lethality. Underlying these phen...
Cells actively position their nuclei based on their activity. In fission yeast, microtubule-dependent nuclear centering is critical for symmetrical cell division. After spindle disassembly at the end ...
Cells actively position their nucleus based on their activity. In fission yeast, microtubule-dependent nuclear centering is critical for symmetrical cell division. After spindle disassembly at the end...
In eukaryotic cell division, a series of events are organized to produce two daughter cells. The spindle elongation in anaphase B is essential for providing enough space to maintain cell size and dist...
Kinetochores form the interface between chromosomes and spindle microtubules and are thus under tight control by a complex regulatory circuitry. The Aurora B kinase plays a central role within this ci...
Ring chromosomes are known in many eukaryotic organisms, including humans. They are typically associated with a variety of maladies, including abnormal development and lethality. Underlying these phen...