Titre : Disomie uniparentale

Disomie uniparentale : Questions médicales fréquentes

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"https://questionsmedicales.fr/mesh/D024182?page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Disomie uniparentale", "description": "Quels traitements sont disponibles pour la disomie uniparentale ?\nLa disomie uniparentale nécessite-t-elle une intervention chirurgicale ?\nLes médicaments sont-ils efficaces pour traiter cette condition ?\nComment la thérapie comportementale aide-t-elle ?\nY a-t-il des traitements expérimentaux pour la disomie uniparentale ?", "url": "https://questionsmedicales.fr/mesh/D024182?page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Disomie uniparentale", "description": "Quelles complications peuvent survenir avec la disomie uniparentale ?\nLa disomie uniparentale augmente-t-elle le risque de maladies ?\nY a-t-il des risques de complications à long terme ?\nLes complications varient-elles selon le chromosome affecté ?\nComment les complications sont-elles gérées ?", "url": "https://questionsmedicales.fr/mesh/D024182?page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Disomie uniparentale", "description": "Quels sont les facteurs de risque de la disomie uniparentale ?\nLes traitements de fertilité augmentent-ils le risque ?\nY a-t-il des facteurs environnementaux impliqués ?\nLes anomalies chromosomiques augmentent-elles le risque ?\nLes antécédents de fausses couches sont-ils un facteur de risque ?", "url": "https://questionsmedicales.fr/mesh/D024182?page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer la disomie uniparentale ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par analyse génétique, souvent via un test d'ADN." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour la disomie uniparentale ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests de microsatellite et le séquençage de l'ADN sont couramment utilisés." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une disomie uniparentale ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des anomalies de croissance ou des troubles métaboliques peuvent indiquer cette condition." } }, { "@type": "Question", "name": "La disomie uniparentale est-elle héréditaire ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut être héritée, mais souvent elle résulte d'une erreur lors de la formation des gamètes." } }, { "@type": "Question", "name": "Quel rôle joue le conseil génétique dans le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Le conseil génétique aide à comprendre les risques et les implications de la disomie." } }, { "@type": "Question", "name": "Quels sont les symptômes courants de la disomie uniparentale ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent inclure des retards de développement et des anomalies congénitales." } }, { "@type": "Question", "name": "La disomie uniparentale cause-t-elle des troubles mentaux ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut être associée à des troubles du développement intellectuel dans certains cas." } }, { "@type": "Question", "name": "Y a-t-il des symptômes spécifiques selon le chromosome affecté ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes varient selon le chromosome impliqué, comme le chromosome 15." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils dès la naissance ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Certains symptômes peuvent être présents à la naissance, d'autres se développent plus tard." } }, { "@type": "Question", "name": "La disomie uniparentale affecte-t-elle la croissance physique ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut entraîner des problèmes de croissance et des anomalies physiques." } }, { "@type": "Question", "name": "Peut-on prévenir la disomie uniparentale ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de méthode de prévention, mais le conseil génétique peut aider à évaluer les risques." } }, { "@type": "Question", "name": "Le dépistage prénatal peut-il détecter la disomie uniparentale ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Le dépistage prénatal peut identifier certains risques, mais pas toujours la disomie." } }, { "@type": "Question", "name": "Les antécédents familiaux influencent-ils le risque ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de troubles génétiques peuvent augmenter le risque." } }, { "@type": "Question", "name": "Les tests génétiques avant la grossesse sont-ils recommandés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent être recommandés pour les couples à risque d'anomalies." } }, { "@type": "Question", "name": "Les conseils préconceptionnels sont-ils utiles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent aider à identifier les risques génétiques avant la conception." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour la disomie uniparentale ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement dépend des symptômes et peut inclure des thérapies physiques ou comportementales." } }, { "@type": "Question", "name": "La disomie uniparentale nécessite-t-elle une intervention chirurgicale ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Une intervention chirurgicale peut être nécessaire pour corriger certaines anomalies physiques." } }, { "@type": "Question", "name": "Les médicaments sont-ils efficaces pour traiter cette condition ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de médicaments spécifiques, mais des traitements symptomatiques peuvent aider." } }, { "@type": "Question", "name": "Comment la thérapie comportementale aide-t-elle ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut améliorer les compétences sociales et comportementales des individus affectés." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux pour la disomie uniparentale ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des recherches sont en cours sur des thérapies géniques, mais elles ne sont pas encore disponibles." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la disomie uniparentale ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles de croissance, des problèmes métaboliques et des malformations." } }, { "@type": "Question", "name": "La disomie uniparentale augmente-t-elle le risque de maladies ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle peut augmenter le risque de certaines maladies génétiques et métaboliques." } }, { "@type": "Question", "name": "Y a-t-il des risques de complications à long terme ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Des complications à long terme peuvent inclure des retards de développement et des troubles cognitifs." } }, { "@type": "Question", "name": "Les complications varient-elles selon le chromosome affecté ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent varier en fonction du chromosome impliqué dans la disomie." } }, { "@type": "Question", "name": "Comment les complications sont-elles gérées ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Les complications sont gérées par des soins médicaux adaptés et un suivi régulier." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de la disomie uniparentale ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent l'âge parental avancé et des antécédents familiaux de troubles génétiques." } }, { "@type": "Question", "name": "Les traitements de fertilité augmentent-ils le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains traitements de fertilité peuvent augmenter le risque de disomie uniparentale." } }, { "@type": "Question", "name": "Y a-t-il des facteurs environnementaux impliqués ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs environnementaux peuvent influencer le risque, mais leur rôle n'est pas bien compris." } }, { "@type": "Question", "name": "Les anomalies chromosomiques augmentent-elles le risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies chromosomiques dans la famille peuvent augmenter le risque de disomie." } }, { "@type": "Question", "name": "Les antécédents de fausses couches sont-ils un facteur de risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents de fausses couches peuvent être associés à un risque accru de disomie." } } ] } ] }

Sources (98 au total)

Clinical features associated with maternal uniparental disomy for chromosome 6.

Maternal uniparental disomy for chromosome 6 (upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in paternal UPD6 ... In case 1, a maternal isodisomy mixed with a heterodisomy was found on chromosome 6, including a regional absence of heterozygosity between 6q23.3 and 6q27. In case 2, a homozygous SCUBE3 mutation and... The phenotypes of the two newly identified patients with upd(Cajaiba MM, Witchel S, Madan-Khetarpal S, Hoover J, Hoffner L, Macpherson T, et al. Prenatal diagnosis of trisomy 6 rescue resulting in pat...

Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.

Uniparental disomy is the inheritance of a homologous chromosome pair or part of homologous chromosomes from only one parent. However, the clinical significance of uniparental disomy and the differenc... To assess the associated prenatal ultrasound presentations and clinical outcomes of uniparental disomy on different chromosomes and to analyze the relationship between prenatal ultrasound markers and ... We retrospectively analyzed data from fetuses with uniparental disomy diagnosed using chromosome microarray analysis with the Affymetrix CytoScan HD array at our institution between January 2013 and S... During the study period, 36 fetuses with uniparental disomy were diagnosed, and two cases were excluded for non-available postnatal data. Finally, 34 fetuses were included in our study, of which 30 (8... The prognosis of fetuses with uniparental disomy combined with fetal abnormalities, especially fetal growth restriction, was much poorer than those without....

Chromosomal microarray analysis for prenatal diagnosis of uniparental disomy: a retrospective study.

Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive p... The detection rate of regions of homozygosity (ROH) ≥ 10 Mb was 1.8% (33/2007), with chromosome 11 being the most frequently implicated (17.1%, 6/33). There were three cases where UPD predicted an abn... The integration of UPD detection by CMA offers a more precise approach to prenatal genetic diagnosis. CMA proves effective in identifying ROH and preventing the birth of children affected by imprintin...

Utilization of a SNP Microarray to Detect Uniparental Disomy: Implications and Outcomes.

To examine the utility of single nucleotide polymorphisms (SNP) microarray analysis to detect uniparental disomy (UPD) by utilizing trios and duos (where only one parent is available).... We established Mendelian Inheritance Error (MIE) values associated with either UPD or biparental inheritance in a cohort of 124 patients. In duos, the percentage of proband heterozygous (AB) SNPs cont... Examination of 25 trios revealed UPD with a MIE = 0.02 +/- 0.02 and a range of 0.01 - 0.23 for the contributing parent and a MIE = 8.76 +/- 1.68 with a range of 5.96 - 11.14 for the non-contributing p... Our results demonstrate utility of a SNP microarray to detect UPD. Distinct MIE ranges were observed that defined UPD or biparental inheritance. In duos, the AB% calculation effectively detected UPD. ...

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pa... Whole-exome sequencing identified a homozygous pathogenic variant in the MRPS34 gene, c.322-10G>A. Only the mother was heterozygous for this variant. SNP-array analysis was performed, which revealed a... We report the case of an 18-year-old female with unremarkable family history. The pregnancy was complicated by oligohydramnios, and the neonatal period was unremarkable. She evolved with low weight, m... We have reported the case of the first patient with COPD32 due to partial maternal uniparental disomy of chromosome 16, being first in Portugal and seventh in the literature. Contrarily to previous pa...