دورية أكاديمية
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings
| العنوان: | Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings |
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| المؤلفون: | Blanluet, Maud, Chantot-Bastaraud, Sandra, Chambon, Pascal, Cassinari, Kévin, Vera, Gabriella, Goldenberg, Alice, Keren, Boris, Le Meur, Nathalie, Hannequin, Didier, Mace, Bertrand, Siffroi, Jean-Pierre, Frebourg, Thierry, Nicolas, Gaël, Joly-Helas, Géraldine |
| المساهمون: | UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP |
| المصدر: | ISSN: 1552-4825. |
| بيانات النشر: | HAL CCSD Wiley |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | mosaic, postzygotic, rescue, unbalanced translocation, MESH: Abnormalities, Multiple, MESH: Cervical Vertebrae, MESH: Translocation, Genetic, MESH: Uniparental Disomy, MESH: Chromosome Banding, MESH: Chromosome Deletion, MESH: Chromosomes, Human, Pair 11, Pair 2, MESH: Female, MESH: Genetic Predisposition to Disease, MESH: Humans, MESH: In Situ Hybridization, Fluorescence, MESH: Intellectual Disability, MESH: Karyotyping, MESH: Kyphosis, MESH: Male, MESH: Mosaicism, MESH: Scoliosis, MESH: Siblings, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio] |
| الوصف: | International audience ; Balanced translocations are associated with a risk of transmission of unbalanced chromosomal rearrangements in the offspring. Such inherited chromosomal abnormalities are typically non-mosaic as they are present in the germline. We report the recurrence in two siblings of a mosaicism for a chromosomal rearrangement inherited from their asymptomatic father who carried a balanced t(2;11)(q35;q25) translocation. Both siblings exhibited a similar phenotype including intellectual disability, dysmorphic features, kyphoscoliosis, and cervical spinal stenosis. Karyotyping, fluorescence in situ hybridization and SNP array analysis of blood lymphocytes of both siblings identified two cell lines: one carrying a 2q35q37.3 duplication and a 11q25qter deletion (~90% cells), and one carrying an 11q uniparental isodisomy of maternal origin (~10% cells). We hypothesize that these mosaics were related to a postzygotic rescue mechanism which unexpectedly recurred in both siblings. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/34043868; inserm-03856026; https://inserm.hal.science/inserm-03856026Test; https://inserm.hal.science/inserm-03856026/documentTest; https://inserm.hal.science/inserm-03856026/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202021%20-%20Blanluet%20-%20Recurrence%20of%20an%20early%20postzygotic%20rescue%20of%20an%20inherited%20unbalanced.pdfTest; PUBMED: 34043868; WOS: 000655175100001 |
| DOI: | 10.1002/ajmg.a.62361 |
| الإتاحة: | https://doi.org/10.1002/ajmg.a.62361Test https://inserm.hal.science/inserm-03856026Test https://inserm.hal.science/inserm-03856026/documentTest https://inserm.hal.science/inserm-03856026/file/American%20J%20of%20Med%20Genetics%20Pt%20A%20-%202021%20-%20Blanluet%20-%20Recurrence%20of%20an%20early%20postzygotic%20rescue%20of%20an%20inherited%20unbalanced.pdfTest |
| رقم الانضمام: | edsbas.7AF1BAD7 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ajmg.a.62361 |
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