questionsmedicales.fr
Phénomènes génétiques
Variation génétique
Mutation
Aberrations des chromosomes
Aberrations des chromosomes : Questions médicales fréquentes
Termes MeSH sélectionnés :
Developmental Disabilities
Diagnostic
5
Caryotype
Analyse cytogénétique
Hybridation in situ
Séquençage génétique
Échographie prénatale
Anomalies congénitales
Conseil génétique
Tests génétiques
Tests sanguins
Anomalies chromosomiques
Symptômes
5
Malformations congénitales
Retard de développement
Troubles mentaux
Développement intellectuel
Anomalies chromosomiques
Symptômes
Types d'aberrations
Gènes
Fertilité
Fausses couches
Prévention
5
Prévention
Conseil génétique
Dépistage prénatal
Anomalies chromosomiques
Traitements
5
Thérapie génique
Recherche
Médicaments
Gestion des symptômes
Suivi médical
Complications
Interventions précoces
Qualité de vie
Complications
5
Complications
Malformations
Problèmes cardiaques
Malformations cardiaques
Troubles du comportement
Anomalies chromosomiques
Qualité de vie
Complications
Facteurs de risque
5
Facteurs de risque
Âge maternel
Substances toxiques
Risque
Antécédents familiaux
Anomalies chromosomiques
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"text": "Oui, le dépistage prénatal permet d'identifier les risques d'anomalies chromosomiques."
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"@type": "Question",
"name": "Le suivi médical avant la grossesse est-il important ?",
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"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines aberrations chromosomiques sont associées à un risque accru de cancer."
}
},
{
"@type": "Question",
"name": "Les problèmes cardiaques sont-ils fréquents avec ces anomalies ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines aberrations chromosomiques peuvent entraîner des malformations cardiaques."
}
},
{
"@type": "Question",
"name": "Les troubles du comportement sont-ils liés aux aberrations chromosomiques ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent être associés à certaines anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles affecter la qualité de vie ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque d'aberrations chromosomiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et des expositions environnementales."
}
},
{
"@type": "Question",
"name": "L'exposition à des substances toxiques augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des substances toxiques peut augmenter le risque d'anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'anomalies chromosomiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Le stress peut-il influencer le risque d'anomalies ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent que le stress peut avoir un impact sur le risque d'anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse sont-elles un facteur de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections pendant la grossesse peuvent augmenter le risque d'anomalies chromosomiques."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 05/05/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), 69120 Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China. huting4123@163.com.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. huting4123@163.com.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
KBR, Houston, TX 77058, USA.
NASA Johnson Space Center, Houston, TX 77058, USA.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
GeneWerk GmbH, Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Oncology, Cancer Research Institute, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czechia.
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Prague, Czecia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czechia.
First Faculty of Medicine, Institute of Biology and Medical Genetics, Charles University, Prague, Czechia.
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Prague, Czecia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.
Division of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland.
Publications dans "Aberrations des chromosomes" :
Developmental disabilities are disproportionately more investigated in higher-income countries. However, global prevalence of developmental disabilities indicate that a large proportion of individuals...
The present work therefore aims to conduct a scientometric review to survey available literature on developmental disabilities in low- and middle-income countries belonging to the continent of Africa....
A literature search was conducted on Scopus, where a total of 1720 relevant publications (and an accompanying 66 thousand references) were found, representing research conducted between 1950 to 2022. ...
The generated network based on document co-citation analysis revealed a total of 14 distinct thematic research clusters and 12 significant documents that have been frequently cited in the literature o...
The scientometric review revealed a trend of broadening research towards systems of care, away from a medical model of disease. It is projected that future research will continue to capitalise on inte...
The goal of this study was to compare the end-tidal sevoflurane concentration and time for intravenous cannulation at induction of anesthesia using sevoflurane with or without nitrous oxide in healthy...
Normal and developmentally disabled children were anesthetized by inhalation of sevoflurane with nitrous oxide or with nitrous oxide-free oxygen, and intravenous cannulae were introduced. Nitrous oxid...
The end-tidal sevoflurane concentrations at the completion of the intravenous cannulation had received a significant main effect of the factor "the use of nitrous oxide" (F(1,166) = 25.8, p < 0.001, η...
Between the healthy children and the children with developmental disabilities, no significant differences in the time required for the intravenous cannulation from the beginning of anesthetic inductio...
Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive...
Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and...
Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level pred...
The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of ...
Friendships contribute to positive social outcomes such as the promotion of prosocial behaviors and social well-being and can lead to an overall healthy quality of life. Despite the importance of frie...
"Lifelong Learning with Friends" provides diversity training to college students by having them learn science alongside adults with intellectual and developmental disabilities (IDDs). Volunteers showe...
The United Nations' Sustainable Development Goals (SDGs) explicitly acknowledge inclusive and equitable quality education as the primary goal of any global initiatives for early childhood development ...
Youth with intellectual and developmental disabilities (I/DD) are impacted by pubertal changes and the onset of menses disproportionately. Despite the fact that for most youth with I/DD, the progressi...
The experiences of parents raising children with developmental disabilities have been widely researched, although most of this research comes from Western, high-income countries. In comparison, little...
For children with neurodevelopmental disabilities (CWNDs), early diagnosis that leads to early intervention with regular targeted therapies is critical. In Qatar, private therapy centres that address ...
This study is based on qualitative, semi-structured, and in-depth interviews with private therapy centres and developmental paediatricians....
Therapy centre representatives expressed common struggles in lengthy and cumbersome administration and licencing procedures, difficulty in hiring and retaining high quality staff, and expenses that ne...
We recommend sincere engagement, dialogue, and cooperation between multiple stakeholders; a supportive ecosystem to balance and distribute the demand that includes schools and parents; as well more ef...
Parenting influences child development. There is limited research, however, related to parenting children who have developmental disabilities. The aims of this study were to: (1) describe the parentin...