questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Chromosomes
Chromosomes de mammifère
Chromosomes humains
Chromosomes humains : Questions médicales fréquentes
Termes MeSH sélectionnés :
Polymorphism, Single Nucleotide
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"headline": "Questions et réponses médicales fréquentes sur Chromosomes humains",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-01",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur Chromosomes humains",
"description": "Comment diagnostiquer une anomalie chromosomique ?\nQuels tests génétiques sont disponibles ?\nQuels signes indiquent un problème chromosomique ?\nQuand faire un test de dépistage chromosomique ?\nQuel rôle joue l'échographie dans le diagnostic ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Polymorphism,+Single+Nucleotide&page=2#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur Chromosomes humains",
"description": "Quels sont les symptômes des syndromes chromosomiques ?\nComment se manifestent les troubles liés aux chromosomes ?\nLes anomalies chromosomiques causent-elles des douleurs ?\nY a-t-il des symptômes spécifiques au syndrome de Down ?\nLes troubles chromosomiques affectent-ils le comportement ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Polymorphism,+Single+Nucleotide&page=2#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur Chromosomes humains",
"description": "Peut-on prévenir les anomalies chromosomiques ?\nQuel rôle joue la santé maternelle ?\nLes tests de dépistage prénatal sont-ils efficaces ?\nL'alimentation influence-t-elle les anomalies chromosomiques ?\nLes antécédents familiaux augmentent-ils les risques ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Polymorphism,+Single+Nucleotide&page=2#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur Chromosomes humains",
"description": "Quels traitements existent pour les anomalies chromosomiques ?\nLa thérapie génique est-elle une option ?\nComment gérer les symptômes des syndromes chromosomiques ?\nLes médicaments peuvent-ils aider ?\nY a-t-il des interventions précoces recommandées ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Polymorphism,+Single+Nucleotide&page=2#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur Chromosomes humains",
"description": "Quelles complications peuvent survenir avec des anomalies chromosomiques ?\nLes anomalies chromosomiques affectent-elles la fertilité ?\nY a-t-il des risques de maladies associées ?\nLes complications peuvent-elles être traitées ?\nLes personnes atteintes ont-elles besoin de soins continus ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Polymorphism,+Single+Nucleotide&page=2#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Chromosomes humains",
"description": "Quels sont les facteurs de risque pour les anomalies chromosomiques ?\nL'âge des parents influence-t-il les risques ?\nLes expositions environnementales sont-elles un risque ?\nLes maladies génétiques augmentent-elles les risques ?\nLe mode de vie peut-il influencer les risques ?",
"url": "https://questionsmedicales.fr/mesh/D002877?mesh_terms=Polymorphism,+Single+Nucleotide&page=2#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une anomalie chromosomique ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un caryotype est réalisé pour examiner le nombre et la structure des chromosomes."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont disponibles ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent l'analyse de l'ADN, le caryotype et le séquençage génomique."
}
},
{
"@type": "Question",
"name": "Quels signes indiquent un problème chromosomique ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des malformations congénitales, des retards de développement ou des troubles de la fertilité."
}
},
{
"@type": "Question",
"name": "Quand faire un test de dépistage chromosomique ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il est recommandé lors de grossesses à risque ou d'antécédents familiaux d'anomalies."
}
},
{
"@type": "Question",
"name": "Quel rôle joue l'échographie dans le diagnostic ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'échographie peut détecter des anomalies physiques pouvant indiquer des problèmes chromosomiques."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes des syndromes chromosomiques ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient, incluant des retards mentaux, des malformations et des troubles comportementaux."
}
},
{
"@type": "Question",
"name": "Comment se manifestent les troubles liés aux chromosomes ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent se manifester par des anomalies physiques, des problèmes de croissance ou des troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Les anomalies chromosomiques causent-elles des douleurs ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elles ne causent pas directement de douleurs, mais peuvent entraîner des complications douloureuses."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques au syndrome de Down ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, incluant un visage plat, des yeux en amande et un tonus musculaire faible."
}
},
{
"@type": "Question",
"name": "Les troubles chromosomiques affectent-ils le comportement ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains peuvent entraîner des troubles du comportement ou des difficultés d'apprentissage."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les anomalies chromosomiques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines anomalies ne peuvent pas être prévenues, mais des conseils génétiques peuvent aider."
}
},
{
"@type": "Question",
"name": "Quel rôle joue la santé maternelle ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une bonne santé maternelle avant et pendant la grossesse peut réduire certains risques chromosomiques."
}
},
{
"@type": "Question",
"name": "Les tests de dépistage prénatal sont-ils efficaces ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent détecter certaines anomalies chromosomiques avant la naissance."
}
},
{
"@type": "Question",
"name": "L'alimentation influence-t-elle les anomalies chromosomiques ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et des suppléments d'acide folique peuvent réduire certains risques."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux augmentent-ils les risques ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'anomalies chromosomiques peuvent augmenter le risque de récurrence."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les anomalies chromosomiques ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements varient selon les symptômes et peuvent inclure thérapies, chirurgie ou médicaments."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche pour certaines anomalies, mais n'est pas encore largement disponible."
}
},
{
"@type": "Question",
"name": "Comment gérer les symptômes des syndromes chromosomiques ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion inclut des soins médicaux, des thérapies physiques et des soutiens éducatifs."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent traiter des symptômes spécifiques comme l'anxiété ou l'hyperactivité."
}
},
{
"@type": "Question",
"name": "Y a-t-il des interventions précoces recommandées ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des interventions précoces en éducation et en thérapie sont cruciales pour le développement."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des anomalies chromosomiques ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des problèmes de santé chroniques, des retards de développement et des troubles mentaux."
}
},
{
"@type": "Question",
"name": "Les anomalies chromosomiques affectent-elles la fertilité ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines anomalies peuvent entraîner des problèmes de fertilité chez les hommes et les femmes."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies associées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les personnes avec des anomalies chromosomiques peuvent avoir un risque accru de certaines maladies."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être traitées ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées avec des traitements médicaux ou des interventions."
}
},
{
"@type": "Question",
"name": "Les personnes atteintes ont-elles besoin de soins continus ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier est souvent nécessaire pour gérer les complications à long terme."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les anomalies chromosomiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et certaines expositions environnementales."
}
},
{
"@type": "Question",
"name": "L'âge des parents influence-t-il les risques ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'âge avancé des parents, surtout de la mère, augmente le risque d'anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les expositions environnementales sont-elles un risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines expositions, comme les radiations ou les produits chimiques, peuvent augmenter les risques."
}
},
{
"@type": "Question",
"name": "Les maladies génétiques augmentent-elles les risques ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents de maladies génétiques dans la famille peuvent accroître le risque d'anomalies."
}
},
{
"@type": "Question",
"name": "Le mode de vie peut-il influencer les risques ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des habitudes comme le tabagisme ou l'alcool peuvent augmenter le risque d'anomalies chromosomiques."
}
}
]
}
]
}
└─
Chromosomes humains 1-3
Chromosomes, Human, 1-3
D002900
-
G05.360.162.520.300.235
└─
Chromosomes humains 4-5
Chromosomes, Human, 4-5
D002905
-
G05.360.162.520.300.280
└─
Chromosomes humains 6-12 et X
Chromosomes, Human, 6-12 and X
D002906
-
G05.360.162.520.300.325
└─
Chromosomes humains 13-15
Chromosomes, Human, 13-15
D002901
-
G05.360.162.520.300.370
└─
Chromosomes humains 16-18
Chromosomes, Human, 16-18
D002902
-
G05.360.162.520.300.415
└─
Chromosomes humains 19-20
Chromosomes, Human, 19-20
D002903
-
G05.360.162.520.300.460
└─
Chromosomes humains 21-22 et Y
Chromosomes, Human, 21-22 and Y
D002904
-
G05.360.162.520.300.505
└─└─
Chromosomes humains de la paire 1
Chromosomes, Human, Pair 1
D002878
-
G05.360.162.520.300.235.240
└─└─
Chromosomes humains de la paire 2
Chromosomes, Human, Pair 2
D002889
-
G05.360.162.520.300.235.245
└─└─
Chromosomes humains de la paire 3
Chromosomes, Human, Pair 3
D002893
-
G05.360.162.520.300.235.250
└─└─
Chromosomes humains de la paire 4
Chromosomes, Human, Pair 4
D002894
-
G05.360.162.520.300.280.285
└─└─
Chromosomes humains de la paire 5
Chromosomes, Human, Pair 5
D002895
-
G05.360.162.520.300.280.290
└─└─
Chromosomes humains de la paire 6
Chromosomes, Human, Pair 6
D002896
-
G05.360.162.520.300.325.330
└─└─
Chromosomes humains de la paire 7
Chromosomes, Human, Pair 7
D002897
-
G05.360.162.520.300.325.335
└─└─
Chromosomes humains de la paire 8
Chromosomes, Human, Pair 8
D002898
-
G05.360.162.520.300.325.340
└─└─
Chromosomes humains de la paire 9
Chromosomes, Human, Pair 9
D002899
-
G05.360.162.520.300.325.345
└─└─
Chromosomes humains de la paire 10
Chromosomes, Human, Pair 10
D002879
-
G05.360.162.520.300.325.350
└─└─
Chromosomes humains de la paire 11
Chromosomes, Human, Pair 11
D002880
-
G05.360.162.520.300.325.355
└─└─
Chromosomes humains de la paire 12
Chromosomes, Human, Pair 12
D002881
-
G05.360.162.520.300.325.360
└─└─
Chromosomes humains de la paire 13
Chromosomes, Human, Pair 13
D002882
-
G05.360.162.520.300.370.375
└─└─
Chromosomes humains de la paire 14
Chromosomes, Human, Pair 14
D002883
-
G05.360.162.520.300.370.380
└─└─
Chromosomes humains de la paire 15
Chromosomes, Human, Pair 15
D002884
-
G05.360.162.520.300.370.385
└─└─
Chromosomes humains de la paire 16
Chromosomes, Human, Pair 16
D002885
-
G05.360.162.520.300.415.420
└─└─
Chromosomes humains de la paire 17
Chromosomes, Human, Pair 17
D002886
-
G05.360.162.520.300.415.425
└─└─
Chromosomes humains de la paire 18
Chromosomes, Human, Pair 18
D002887
-
G05.360.162.520.300.415.430
└─└─
Chromosomes humains de la paire 19
Chromosomes, Human, Pair 19
D002888
-
G05.360.162.520.300.460.465
└─└─
Chromosomes humains de la paire 20
Chromosomes, Human, Pair 20
D002890
-
G05.360.162.520.300.460.470
└─└─
Chromosomes humains de la paire 21
Chromosomes, Human, Pair 21
D002891
-
G05.360.162.520.300.505.510
└─└─
Chromosomes humains de la paire 22
Chromosomes, Human, Pair 22
D002892
-
G05.360.162.520.300.505.515
The association between gestational diabetes mellitus (GDM) and single nucleotide polymorphisms (SNPs) has attracted global research attention. Exploring SNPs can help us further understand the pathog...
Mutations in the mitochondrial genome (mtDNA) have been associated with maternally inherited genetic diseases. However, interest in mtDNA polymorphisms has increased in recent years due to the recentl...
The mutations in the αA-crystallin (CRYAA) gene may contribute to the development of age-related cataract (ARC). In this study, we searched for single nucleotide polymorphisms (SNP) in exons of CRYAA ...
Peripheral venous blood was collected for the extraction of genomic DNA. Three exons of CRYAA were sequenced to detect SNPs. The frequency distributions of alleles and genotypes were compared between ...
There were 618 patients with various subtypes of ARC (nuclear cataract [NC], cortical cataract [CC], posterior subcapsular cataract [PSC]). The control group comprised 236 patients. The incidence of e...
The SNP rs76740365 G>A in exon 3 of the CRYAA gene is associated with greater susceptibility of ARC, particularly the PSC subtype. Individuals carrying the SNP rs76740365 G>A may be more likely to dev...
Metformin has been recognized as the first-choice drug for type 2 diabetes mellitus (T2DM). The potency of metformin in the treatment of type 2 diabetes has always been in the spotlight and shown sign...
Here, we reviewed the current knowledge about gene polymorphisms impacting metformin efficacy based on transporter and drug target proteins....
The reason for the difference in clinical drug potency of metformin can be attributed to the gene polymorphism of drug transporters and drug target proteins in the human body. Substantial evidence sho...
We investigated the associations between FKBP5 single-nucleotide polymorphisms (SNPs) and functional seizures (FS)....
Seventy patients with FS, 140 with major depressive disorder (MDD), and 140 healthy controls were studied. Their DNAs were analyzed for the rs1360780 in the 3' region and rs9470080 in the 5' region of...
Patients with FS and those with MDD had less GG and more AA genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. Similar results were observed for allelic frequencie...
Patients with FS and those with MDD had significantly different genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. However, it seems that FKBP5 polymorphisms were ...
The susceptibility of different individuals to anesthetics varies widely, and sevoflurane is no exception. We hypothesized that polymorphisms in genes involved in pharmacokinetics and pharmacodynamics...
Genome-wide copy number profiling by single-nucleotide polymorphism (SNP) array is increasingly employed in the clinical diagnostic workup of melanocytic tumors. We present our SNP array results on 67...
Systematic research on the associations between vital single nucleotide polymorphisms (SNPs) in MALAT1 and cancer risk was still lacking. Thus, we performed this study....
The literature searches were until April 1, 2022. The pooled association-analysis results were assessed by odds ratios (ORs) and the corresponding 95% confidence intervals (CIs) in three genetic model...
Eighteen articles about four SNPs (rs619586, rs664589, rs1194338, and rs3200401) involving 11,843 cancer cases and 14,682 controls were collected. Rs619586, rs664589, and rs1194338 were associated wit...
The functional SNPs in MALAT1 correlated with cancer risk. MALAT1 and its vital functional SNPs might be potential biomarkers for predicting the risk and prognosis of two types of cancer, especially C...
Single-nucleotide polymorphisms in G protein subunits are linked to an increased risk of cardiovascular events among the general population. We assessed the effects of...
Gender incongruence (GI) is characterized by a marked incongruence between an individual's experienced/expressed gender and the assigned sex at birth. It includes strong displeasure about his or her s...
We analyzed 74 single nucleotide polymorphisms located at the metabotropic glutamate receptors (mGluR1, mGluR3, mGluR4, mGluR5, mGluR7 and mGluR8) in 94 transgender...
After analysis of allele and genotypic frequencies, we found twenty-five polymorphisms with significant differences at level P ≤ 0.05, five at P ≤ 0.005 and two at P ≤ 0.0005. Furthermore, the only tw...
We provide genetic evidence that the mGluR7, and therefore glutamatergic neurotransmission, may be involved in GI and GD....