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Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations

التفاصيل البيبلوغرافية
العنوان: Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
المؤلفون: Bérénice Hervé, Thibaud Quibel, Rodolphe Dard, D. Molina-Gomes, F. Vialard, Sophie Roy, Hela Bellil
المساهمون: centre hospitalier intercommunal de Poissy/Saint-Germain-en-Laye - CHIPS [Poissy], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Biologie de la Reproduction, Environnement, Epigénétique & Développement (BREED), École nationale vétérinaire d'Alfort (ENVA)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Service de gynécologie et obstétrique [CHI Poissy-Saint Germain], CHI Poissy-Saint-Germain
المصدر: European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (8), ⟨10.1016/j.ejmg.2020.103956⟩
بيانات النشر: Elsevier BV, 2020.
سنة النشر: 2020
مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Prenatal diagnosis, Locus (genetics), 030105 genetics & heredity, Biology, 03 medical and health sciences, Intellectual disability, Gene duplication, Genetics, medicine, Copy-number variation, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Inheritance, Variant of unknown significance, Susceptibility locus, General Medicine, medicine.disease, Penetrance, 3. Good health, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 2q13 microduplication, Comparative genomic hybridization
الوصف: International audience; In recent years, the introduction of novel genome analysis technologies (such as array comparative genomic hybridization) has enabled the prenatal diagnosis of various recurrent copy number variations (CNVs). Some of these CNVs have been linked to a greater susceptibility of developmental and neuropsychiatric disorders; for example, recurrent duplication at the 2q13 locus is associated with developmental delay, dysmorphism and intellectual disability. However, this CNV has low penetrance and variable clinical expressivity. It also can be observed in healthy controls and can be transmitted by unaffected parents, making genetic counseling especially challenging. Here, we report on the inheritance of a 2q13 duplication in an asymptomatic family; the case highlights the role of the family survey in genetic counseling with regard to novel CNVs diagnosed before birth.
تدمد: 1769-7212
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::989f7a57b8e623cb0ef019e27aaedb9e
https://doi.org/10.1016/j.ejmg.2020.103956
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....989f7a57b8e623cb0ef019e27aaedb9e
قاعدة البيانات: OpenAIRE
الوصف
تدمد:17697212