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"description": "Comment diagnostiquer la disomie uniparentale ?\nQuels tests sont utilisés pour la disomie uniparentale ?\nQuels signes cliniques indiquent une disomie uniparentale ?\nLa disomie uniparentale est-elle héréditaire ?\nQuel rôle joue le conseil génétique dans le diagnostic ?",
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"@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."
}
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{
"@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."
}
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{
"@type": "Question",
"name": "La disomie uniparentale affecte-t-elle la croissance physique ?",
"position": 10,
"acceptedAnswer": {
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"text": "Oui, elle peut entraîner des problèmes de croissance et des anomalies physiques."
}
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"@type": "Question",
"name": "Peut-on prévenir la disomie uniparentale ?",
"position": 11,
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"text": "Il n'existe pas de méthode de prévention, mais le conseil génétique peut aider à évaluer les risques."
}
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{
"@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."
}
}
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}
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We describe a patient presenting with argininosuccinic aciduria and Silver-Russell syndrome (SRS). SRS was caused by maternal uniparental disomy of chromosome 7 (UPD(7)mat). UPD(7)mat also unmasked a ...
Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this...
Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these...
Amniotic fluid samples were collected from four cases. Karyotype, chromosome microarray analysis, short tandem repeats, and whole exome sequencing were adopted to analyze fetal chromosomal aneuploidy,...
All four fetuses showed mosaic chromosomal aneuploidy and UPD simultaneously. The results were: Case 1: T2(7%) and UPD(2)mat(12%). Case 2: T15(60%) and UPD(15)mat(40%). Case 3: 45,X(13%) and genome-wi...
UPD is often present with mosaic aneuploidy. It is necessary to analyze them simultaneously using a whole battery of analyses for these cases when their chromosomes with imprinted regions are involved...
Uniparental disomy has long been recognized as a significant cause of genetic disease in imprinting-associated conditions. More recently, it has increasingly been implicated as a potentially significa...
Fetal growth restriction (FGR), a leading cause of perinatal morbidity and mortality, is caused by fetal, maternal, and placental factors. Uniparental disomy (UPD) is a rare condition that leads to im...
A hydatidiform mole (HM) or molar pregnancy is the most common benign form of gestational trophoblastic disease characterized by a proliferation of the trophoblastic epithelium and villous edema. Hyda...
Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported ...
Both cases exhibited intrauterine growth restriction (IUGR), and genetic analysis confirmed upd(6)mat in each case. The literature review identified a total of 19 cases. IUGR and preterm labor were th...
upd(6)mat is potentially associatied with IUGR, but the precise genotype-phenotype relationship remains unclear. The cases with upd(6)mat may present clinical features due to imprinting disorders....
To inform clinicians of the first known case of a live born diagnosed with syndromic partial trisomy 15 and maternal uniparental disomy 15 resulting from a mosaic embryo transfer (MET). We believe tha...
Case report....
In vitro fertilization with preimplantation genetic testing for aneuploidy (PGT-A) and MET was completed at a fertility clinic in Canada. Postnatal testing and diagnosis were performed at the Medical ...
A newborn male with a diagnosis of partial trisomy 15 and uniparental disomy (UPD) 15....
Mosaic embryo transfer after PGT-A was performed. Diagnostic testing performed after birth included a karyotype, fluorescence in situ hybridization analysis, chromosomal microarray, and microsatellite...
Confirmed nonmosaic partial aneuploidy of trisomy 15 and UPD15 in a symptomatic newborn conceived from MET....
Singleton pregnancy was achieved after a double embryo transfer involving 1 embryo diagnosed by PGT-A with high-level mosaic trisomy 15 and high-level mosaic deletion on chromosome 20 (mos(del(20)(q11...
This case highlights the need for better guidelines and management of pregnancies achieved after MET....
A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity of uniparenta...
We summarized two cases of congenital factor V deficiency (FVD) associated with a novel F5 mutation, and analyzed the relationship of the clinical features and genetic characteristics in congenital FV...