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Phénomènes génétiques
Ploïdies
Aneuploïdie
Monosomie
Monosomie : Questions médicales fréquentes
Termes MeSH sélectionnés :
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"description": "Comment diagnostiquer une monosomie ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques indiquent une monosomie ?\nLa biopsie de villosités choriales est-elle utile ?\nQuel rôle joue l'échographie dans le diagnostic ?",
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"@type": "Question",
"name": "Comment diagnostiquer une monosomie ?",
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"text": "Le diagnostic se fait par analyse chromosomique, comme le caryotype."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests comme l'analyse de l'ADN et le séquençage peuvent être utilisés."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques indiquent une monosomie ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies physiques, retard de développement ou troubles cognitifs peuvent indiquer une monosomie."
}
},
{
"@type": "Question",
"name": "La biopsie de villosités choriales est-elle utile ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle permet de détecter des anomalies chromosomiques pendant la grossesse."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'échographie dans le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'échographie peut révéler des malformations congénitales associées à la monosomie."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes courants de la monosomie ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des anomalies physiques, des retards de croissance et des troubles cognitifs."
}
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{
"@type": "Question",
"name": "La monosomie peut-elle causer des problèmes cardiaques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines formes de monosomie sont associées à des malformations cardiaques."
}
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"@type": "Question",
"name": "Y a-t-il des signes de troubles du développement ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des retards dans le langage et les compétences motrices peuvent être observés."
}
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{
"@type": "Question",
"name": "Les troubles comportementaux sont-ils fréquents ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement et des difficultés d'apprentissage peuvent survenir."
}
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{
"@type": "Question",
"name": "La monosomie affecte-t-elle le système immunitaire ?",
"position": 10,
"acceptedAnswer": {
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"text": "Certaines formes de monosomie peuvent entraîner une immunodéficience."
}
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{
"@type": "Question",
"name": "Peut-on prévenir la monosomie ?",
"position": 11,
"acceptedAnswer": {
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"text": "Il n'existe pas de méthode de prévention, mais un suivi prénatal peut aider à la détection."
}
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{
"@type": "Question",
"name": "Quels conseils pour les femmes enceintes ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et des soins prénatals réguliers sont recommandés."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils utiles avant la grossesse ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent aider à évaluer le risque de transmettre des anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il recommandé ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier des risques de monosomie."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de troubles chromosomiques peuvent augmenter le risque."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour la monosomie ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement est symptomatique et peut inclure des thérapies physiques et éducatives."
}
},
{
"@type": "Question",
"name": "La chirurgie est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la chirurgie peut être nécessaire pour corriger certaines malformations physiques."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments peuvent être prescrits pour gérer des symptômes spécifiques, comme l'anxiété."
}
},
{
"@type": "Question",
"name": "Comment la thérapie comportementale aide-t-elle ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle peut aider à gérer les troubles du comportement et améliorer les compétences sociales."
}
},
{
"@type": "Question",
"name": "Y a-t-il des programmes de soutien disponibles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des programmes de soutien pour les familles et les patients sont souvent disponibles."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec la monosomie ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications incluent des malformations congénitales et des troubles de la croissance."
}
},
{
"@type": "Question",
"name": "La monosomie peut-elle affecter la fertilité ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines formes de monosomie peuvent entraîner des problèmes de fertilité."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de cancer ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines monosomies sont associées à un risque accru de développer certains cancers."
}
},
{
"@type": "Question",
"name": "Les troubles neurologiques sont-ils possibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles neurologiques peuvent survenir, affectant le développement cognitif."
}
},
{
"@type": "Question",
"name": "La survie est-elle affectée par la monosomie ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "La survie dépend du type de monosomie et des complications associées."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque de monosomie ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'âge maternel avancé et des antécédents familiaux de troubles chromosomiques sont des facteurs de risque."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse augmentent-elles le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections peuvent augmenter le risque de complications chromosomiques."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines est-elle un facteur ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des toxines environnementales peut augmenter le risque de monosomie."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie influencent-elles le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des habitudes de vie comme le tabagisme peuvent influencer le risque de complications."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs génétiques impliqués ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des anomalies génétiques héréditaires peuvent augmenter le risque de monosomie."
}
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Vascular malformations (VMs) are rare disorders of vasculogenesis associated with substantial morbidity. Improved understanding of their genetic basis is increasingly guiding management, but logistica...
To examine the institutional mechanisms for and obstacles to obtaining genetic testing for VM....
This survey study invited members of the Pediatric Hematology-Oncology Vascular Anomalies Interest Group, representing 81 vascular anomaly centers (VACs) serving individuals up to 18 years of age, to ...
Vascular anomaly center and associated clinician characteristics and practice patterns for ordering and obtaining insurance approval for genetic testing for VMs were collected....
Responses were received from 55 of 81 clinicians, for a response rate of 67.9%. Most respondents were PHOs (50 [90.9%]). Most respondents (32 of 55 respondents [58.2%]) replied that they order genetic...
Results of this survey study showed the barriers to genetic testing for VM across VACs, described differences between VACs based on size, and proposed multiple interventions to support clinicians orde...
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Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of gen...
This retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/...
One hundred and thirteen children (83 NL, 30 NC) from 7 centers were included. Genetic testing was positive in 32% overall (29% NL, 40% NC) with definite diagnoses (had pathogenic variants alone) made...
Genetic testing was high-yield with definite, probable, or possible explanatory variants found in up to one-third of children with NL/NC and shows promise to improve clinical practice. A higher resolu...
Due to the increasing accessibility, molecular diagnostics are becoming more important in urology. There are validated predictive and prognostic biomarkers available for prostate cancer. This has clin...
This study explores the effects of exposure to a reality television narrative depicting genetic testing on attitudes and intentions, looking particularly at the effects of narratives containing elemen...
Approximately 10% of primary hyperparathyroidism cases are hereditary, due to germline mutations in certain genes. Although clinically relevant, a systematized genetic diagnosis is missing due to a la...
A customized gene panel (...
Germline variants were observed in 9/40 patients (22.5%): 2 previously unknown pathogenic/likely pathogenic variants of...
The observed prevalence of germline variants in the Mediterranean cohort under study was remarkable and slightly higher than that seen in other populations. Genetic screening for suspected familial hy...
Preimplantation genetic testing (PGT) has emerged as a revolutionary technique in the field of reproductive medicine, allowing for the selection and transfer of healthy embryos, thus reducing the risk...
The identification of disease-causing mutations or strong risk factors for Parkinson's disease in genes encoding proteins such as α-synuclein (SNCA), leucine-rich repeat kinase-2 (LRRK2), or glucocere...
Dilated cardiomyopathy (DCM) is one of the most prevalent primary cardiomyopathies and may be caused by genetic and non-genetic etiologies. DCM may also be the final common pathway of other cardiomyop...
Performing a comprehensive genetic study could have a diagnostic yield up to 40% in DCM, and it is considered a cost-effective approach nowadays. The detection of a specific underlying genetic substra...