Titre : Aberrations des chromosomes

Aberrations des chromosomes : Questions médicales fréquentes

Termes MeSH sélectionnés :

Hyperopia

Questions fréquentes et termes MeSH associés

Diagnostic 5

#1

Comment diagnostique-t-on une aberration chromosomique ?

Le diagnostic se fait par analyse cytogénétique, comme le caryotype.
Caryotype Analyse cytogénétique
#2

Quels tests sont utilisés pour détecter les aberrations chromosomiques ?

Les tests incluent le caryotype, l'hybridation in situ et le séquençage génétique.
Hybridation in situ Séquençage génétique
#3

Les échographies peuvent-elles détecter des anomalies chromosomiques ?

Oui, certaines anomalies peuvent être suspectées par échographie prénatale.
Échographie prénatale Anomalies congénitales
#4

Quel rôle joue le conseil génétique dans le diagnostic ?

Le conseil génétique aide à évaluer le risque et à interpréter les résultats des tests.
Conseil génétique Tests génétiques
#5

Les tests sanguins peuvent-ils révéler des aberrations chromosomiques ?

Oui, des tests sanguins peuvent détecter des anomalies chromosomiques spécifiques.
Tests sanguins Anomalies chromosomiques

Symptômes 5

#1

Quels sont les symptômes des aberrations chromosomiques ?

Les symptômes varient, incluant des malformations congénitales et des retards de développement.
Malformations congénitales Retard de développement
#2

Les aberrations chromosomiques causent-elles des troubles mentaux ?

Oui, certaines aberrations peuvent être associées à des troubles du développement intellectuel.
Troubles mentaux Développement intellectuel
#3

Peut-on avoir des symptômes sans aberration chromosomique visible ?

Oui, certaines anomalies peuvent ne pas être visibles mais entraîner des symptômes.
Anomalies chromosomiques Symptômes
#4

Les symptômes varient-ils selon le type d'aberration ?

Oui, les symptômes dépendent du type d'aberration et des gènes affectés.
Types d'aberrations Gènes
#5

Les anomalies chromosomiques peuvent-elles affecter la fertilité ?

Oui, certaines aberrations peuvent entraîner des problèmes de fertilité ou des fausses couches.
Fertilité Fausses couches

Prévention 5

#1

Peut-on prévenir les aberrations chromosomiques ?

Certaines aberrations ne peuvent pas être prévenues, mais le conseil génétique aide à évaluer les risques.
Prévention Conseil génétique
#2

Le dépistage prénatal peut-il réduire les risques ?

Oui, le dépistage prénatal permet d'identifier les risques d'anomalies chromosomiques.
Dépistage prénatal Anomalies chromosomiques
#3

Les habitudes de vie influencent-elles les aberrations chromosomiques ?

Certaines habitudes, comme l'alcool et le tabac, peuvent augmenter le risque d'anomalies.
Habitudes de vie Risque
#4

Les vaccinations peuvent-elles prévenir des anomalies ?

Certaines vaccinations peuvent prévenir des infections qui pourraient causer des anomalies.
Vaccinations Infections
#5

Le suivi médical avant la grossesse est-il important ?

Oui, un suivi médical peut aider à identifier et gérer les risques avant la grossesse.
Suivi médical Grossesse

Traitements 5

#1

Quels traitements existent pour les aberrations chromosomiques ?

Le traitement dépend des symptômes, incluant thérapies, chirurgie ou soutien éducatif.
Thérapies Chirurgie
#2

La thérapie génique est-elle une option pour ces anomalies ?

La thérapie génique est en recherche, mais pas encore largement disponible pour ces anomalies.
Thérapie génique Recherche
#3

Les médicaments peuvent-ils aider à gérer les symptômes ?

Oui, des médicaments peuvent être prescrits pour gérer certains symptômes associés.
Médicaments Gestion des symptômes
#4

Le suivi médical est-il important pour ces patients ?

Oui, un suivi régulier est crucial pour surveiller les complications et ajuster les traitements.
Suivi médical Complications
#5

Les interventions précoces sont-elles bénéfiques ?

Oui, les interventions précoces peuvent améliorer le développement et la qualité de vie.
Interventions précoces Qualité de vie

Complications 5

#1

Quelles complications peuvent survenir avec des aberrations chromosomiques ?

Les complications incluent des malformations, des troubles de la croissance et des problèmes de santé.
Complications Malformations
#2

Les aberrations chromosomiques augmentent-elles le risque de cancer ?

Oui, certaines aberrations chromosomiques sont associées à un risque accru de cancer.
Cancer Risque
#3

Les problèmes cardiaques sont-ils fréquents avec ces anomalies ?

Oui, certaines aberrations chromosomiques peuvent entraîner des malformations cardiaques.
Problèmes cardiaques Malformations cardiaques
#4

Les troubles du comportement sont-ils liés aux aberrations chromosomiques ?

Oui, des troubles du comportement peuvent être associés à certaines anomalies chromosomiques.
Troubles du comportement Anomalies chromosomiques
#5

Les complications peuvent-elles affecter la qualité de vie ?

Oui, les complications peuvent significativement impacter la qualité de vie des patients.
Qualité de vie Complications

Facteurs de risque 5

#1

Quels sont les facteurs de risque d'aberrations chromosomiques ?

Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et des expositions environnementales.
Facteurs de risque Âge maternel
#2

L'exposition à des substances toxiques augmente-t-elle le risque ?

Oui, l'exposition à des substances toxiques peut augmenter le risque d'anomalies chromosomiques.
Substances toxiques Risque
#3

Les antécédents familiaux jouent-ils un rôle ?

Oui, des antécédents familiaux d'anomalies chromosomiques augmentent le risque.
Antécédents familiaux Anomalies chromosomiques
#4

Le stress peut-il influencer le risque d'anomalies ?

Certaines études suggèrent que le stress peut avoir un impact sur le risque d'anomalies chromosomiques.
Stress Risque
#5

Les infections pendant la grossesse sont-elles un facteur de risque ?

Oui, certaines infections pendant la grossesse peuvent augmenter le risque d'anomalies chromosomiques.
Infections Grossesse
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?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Certaines habitudes, comme l'alcool et le tabac, peuvent augmenter le risque d'anomalies." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir des anomalies ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations peuvent prévenir des infections qui pourraient causer des anomalies." } }, { "@type": "Question", "name": "Le suivi médical avant la grossesse est-il important ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi médical peut aider à identifier et gérer les risques avant la grossesse." } }, { "@type": "Question", "name": "Quels traitements existent pour les aberrations chromosomiques ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement dépend des symptômes, incluant thérapies, chirurgie ou soutien éducatif." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option pour ces anomalies ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais pas encore largement disponible pour ces anomalies." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider à gérer les symptômes ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des médicaments peuvent être prescrits pour gérer certains symptômes associés." } }, { "@type": "Question", "name": "Le suivi médical est-il important pour ces patients ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller les complications et ajuster les traitements." } }, { "@type": "Question", "name": "Les interventions précoces sont-elles bénéfiques ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les interventions précoces peuvent améliorer le développement et la qualité de vie." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec des aberrations chromosomiques ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des malformations, des troubles de la croissance et des problèmes de santé." } }, { "@type": "Question", "name": "Les aberrations chromosomiques augmentent-elles le risque de cancer ?", "position": 22, "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." } } ] } ] }
Dr Olivier Menir

Contenu validé par Dr Olivier Menir

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

Auteurs principaux

Kari Hemminki

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.

Yasmeen Niazi

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.

Ludmila Vodickova

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.

Pavel Vodicka

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.

Asta Försti

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.

Jiamin Wang

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" :

Zhu Zhang

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" :

Shanling Liu

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" :

He Wang

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" :

Ting Hu

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" :

Ianik Plante

3 publications dans cette catégorie

Affiliations :
  • KBR, Houston, TX 77058, USA.
  • NASA Johnson Space Center, Houston, TX 77058, USA.

Hauke Thomsen

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • GeneWerk GmbH, Heidelberg, Germany.

Bozena Smolkova

3 publications dans cette catégorie

Affiliations :
  • Department of Molecular Oncology, Cancer Research Institute, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.

Michal Kroupa

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.

Veronika Vymetalkova

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.

Alena Kazimirova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Magdalena Barancokova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Katarina Volkovova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Marta Staruchova

3 publications dans cette catégorie

Affiliations :
  • Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.

Per Hoffmann

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.

Sources (113 au total)

Pupil barycenter configuration in patients with myopia and hyperopia.

To compare the apparent chord mu between hyperopia and myopia cases and investigate the usefulness of iris barycenter configurations as an alternative for performing kappa angle distance calculations.... This prospective study evaluated 394 eyes of 197 patients classified into two groups according to their spherical equivalent values: the myopic (mean spherical equivalent refraction ≤ - 0.50 D) and th... Of the 197 patients, 109 (55.3%) were female and 88 (44.7%) were male individuals; their ages ranged from 7 to 60 years (mean, 35.16 ± 14.75 years). The average pupil barycenter distances were 0.38 ± ... The measurements for the apparent chord mu of the pupil and iris barycenter origins were higher in hyperopic than in myopic cases....

Prescribing patterns for hyperopia: an insight of the optometrist perspective and practice.

To investigate the current prescribing patterns for correcting hyperopia among optometrists in clinical practice in Saudi Arabia and compare those to current international guidelines. And explore the ... This cross-sectional study employed 30 items online survey that encompass demographic data, current practice and cycloplegia use, numerical response to indicate the minimum level of hyperopia at which... A total of 104 optometrists responded to the survey (52 females and 52 males). They recruited from 35 cities across Saudi Arabia. Out of total, 44% of them considered cycloplegic refraction essential ... There are some matches between the international guidelines and the practice patterns that followed by optometrists in Saudi Arabia, however, the optometrists did not report that they are following th...

Evaluation of a Pilot Protocol for Detecting Infant Hyperopia.

Highly hyperopic children are at greater risk for developing conditions such as strabismus, amblyopia, and early literacy and reading problems. High hyperopia is a common finding in infants in a pedia... This study aimed to evaluate the effectiveness of a pilot screening program to detect high hyperopia in 2-month-old infants in a pediatric medical practice in Columbus, Ohio.... Cycloplegic refractive error (1% tropicamide) was measured by retinoscopy and autorefraction with the Welch Allyn SureSight (Welch Allyn/Hillrom, Skaneateles Falls, NY) in 473 infants (55.4% female) w... Twenty-eight infants (5.9%) had high hyperopia (spherical equivalent, ≥+5.00 D), and 61 (12.9%) had high hyperopia (≥+5.00 D in at least one meridian of at least one eye) by retinoscopy with 1% tropic... High hyperopia was a common finding in 2-month-old infants in a pediatric medical setting that could be detected effectively by cycloplegic autorefraction using tropicamide. Greater cooperation betwee...

Optical and Clinical Outcomes of an Enhanced Monofocal Intraocular Lens for High Hyperopia.

To evaluate the optical and clinical performance of an enhanced monofocal intraocular lens (IOL) (TECNIS Eyhance ICB00; Johnson & Johnson Vision) in patients with high hyperopia and a short axial leng... Power mapping, wavefront analysis, and the through-focus modulation transfer function area (TF-MTFa) were measured in vitro for three IOL powers (10.00, 20.00, and 30.00 diopters [D]). The clinical st... For the three IOL powers, the power mapping revealed an increase in positive power from the periphery to the center of the lens, providing an extra positive correction of 1.00 D for a 2-mm pupil size.... The monofocal enhanced IOL provided good distance optical and visual quality and optimal visual acuity up to an intermediate-near vision distance of 50 to 40 cm in patients with high hyperopia and a s...

SMILE for Hyperopia With and Without Astigmatism: Results of a Prospective Multicenter 12-Month Study.

To investigate the safety and effectiveness of small incision lenticule extraction (SMILE) in patients who have hyperopia with or without astigmatism.... This was a prospective multicenter trial including 374 eyes of 199 patients treated by SMILE for hyperopia using the VisuMax femtosecond laser (Carl Zeiss Meditec AG). Inclusion criteria were sphere u... The preoperative spherical equivalent was +3.20 ± 1.48 D (range: +0.25 to +6.50 D). At the 12-month follow-up visit, 81% of eyes treated were within ±0.50 D and 93% of eyes were within ±1.00 D of inte... SMILE was found to be an effective treatment method for the correction of compound hyperopic astigmatism, demonstrating a high level of efficacy, predictability, safety, and stability....

Prescribing patterns for paediatric hyperopia among paediatric eye care providers.

To survey paediatric eye care providers to identify current patterns of prescribing for hyperopia.... Paediatric eye care providers were invited, via email, to participate in a survey to evaluate current age-based refractive error prescribing practices. Questions were designed to determine which facto... Responses were submitted by 738 participants regarding how they prescribe for their hyperopic patients. Most providers within each profession considered similar clinical factors when prescribing. The ... Prescribing patterns for paediatric hyperopia vary significantly among eye care providers....

Long-term surgical outcomes of basic-type exotropia in patients with hyperopia.

To investigate the surgical outcomes of basic-type exotropia in patients with hyperopia.... The medical records of patients who underwent surgery for basic-type exotropia and had been followed up for ≥ 2 years were retrospectively recruited. Patients with myopia and spherical equivalent (SE)... Seventy-five patients (24 males and 51 females, mean age 5.1 ± 2.6 years, range 2.7-14.8) were included. The SE ranged from -0.9 to 4.4 and 21 patients were classified into group H and 54 into group E... Surgery for basic-type intermittent exotropia resulted in superior outcomes in patients with hyperopia compared to those with emmetropia....

Quantitative assessment of colour fundus photography in hyperopia children based on artificial intelligence.

This study aimed to quantitatively evaluate optic nerve head and retinal vascular parameters in children with hyperopia in relation to age and spherical equivalent refraction (SER) using artificial in... This cross-sectional study included 324 children with hyperopia aged 3-12 years. Participants were divided into low hyperopia (SER+0.5 D to+2.0 D) and moderate-to-high hyperopia (SER≥+2.0 D) groups. F... Overall, 324 children were included, 172 with low and 152 with moderate-to-high hyperopia. The median optic disc area and vessel diameter were 1.42 mm... AI-based CFP analysis showed that children with high hyperopia had larger mean vessel diameter but smaller vertical cup-to-disc ratio than those with low hyperopia. This suggests that AI can provide q...

Genetic analysis assists diagnosis of clinical systemic disease in children with excessive hyperopia.

A thorough examination (especially those including visual functional evaluation) is very important in children's eye-development during clinical practice, when they encountered with unusual excessive ... A 3-year-old and an 8-year-old boy, both Chinese children clinically manifested as bilateral excessive hyperopia (≥+10.00), severe amblyopia and exotropia, have been genetically diagnosed as Senior-Lo... This report demonstrates the importance of genetic diagnosis before a clinical consult. When children are too young to cooperate with examinations, genetic testing is valuable for predicting other sys...