Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation
| العنوان: | Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation |
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| المؤلفون: | Borck, G., Rio, M, Sanlaville, D., Redon, Roland, Molinari, F., Bacq, D, Raoul, O, Cormier-Daire, V., Lyonnet, S., Amiel, J., Le Merrer, M., de Blois, M. C., Prieur, M., Vekemans, M., Carter, NP, Munnich, A., Colleaux, Laurence |
| المساهمون: | Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP] |
| المصدر: | Clinical Genetics Clinical Genetics, Wiley, 2004, 66 (2), pp.122-127. ⟨10.1111/j.1399-0004.2004.00288.x⟩ |
| سنة النشر: | 2004 |
| مصطلحات موضوعية: | Chromosome Aberrations, MESH: Humans, MESH: Genetic Testing, Genotype, Nucleic Acid Hybridization, MESH: Microscopy, Fluorescence, Telomere, MESH: Intellectual Disability, MESH: Nucleic Acid Hybridization, MESH: Genotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Microscopy, Fluorescence, MESH: Child, Intellectual Disability, MESH: Chromosome Aberrations, Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Microsatellite Repeats, Genetic Testing, MESH: Telomere, Child, In Situ Hybridization, Fluorescence, Microsatellite Repeats |
| الوصف: | International audience; Mental retardation (MR) is the most common developmental disability, affecting approximately 2% of the population. The causes of MR are diverse and poorly understood, but chromosomal rearrangements account for 4-28% of cases, and duplications/deletions smaller than 5 Mb are known to cause syndromic MR. We have previously developed a strategy based on automated fluorescent microsatellite genotyping to test for telomere integrity. This strategy detected about 10% of cryptic subtelomeric rearrangements in patients with idiopathic syndromic MR. Because telomere screening is a first step toward the goal of analyzing the entire genome for chromosomal rearrangements in MR, we have extended our strategy to 400 markers evenly distributed along the chromosomes to detect interstitial anomalies. Among 97 individuals tested, three anomalies were found: two deletions (one in three siblings) and one parental disomy. These results emphasize the value of a genome-wide microsatellite scan for the detection of interstitial aberrations and demonstrate that automated genotyping is a sensitive method that not only detects small interstitial rearrangements and their parental origin but also provides a unique opportunity to detect uniparental disomies. This study will hopefully contribute to the delineation of new contiguous gene syndromes and the identification of new imprinted regions. |
| تدمد: | 0009-9163 1399-0004 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::392dfe461b4a7491b39baa10ae9b4449 https://pubmed.ncbi.nlm.nih.gov/15253762 |
| رقم الأكسشن: | edsair.pmid.dedup....392dfe461b4a7491b39baa10ae9b4449 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00099163 13990004 |
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