Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings

Autor: Alice Goldenberg, Gaël Nicolas, Maud Blanluet, Sandra Chantot-Bastaraud, Gabriella Vera, Boris Keren, Géraldine Joly-Helas, Thierry Frebourg, Didier Hannequin, Jean-Pierre Siffroi, Kévin Cassinari, Nathalie Le Meur, Bertrand Mace, Pascal Chambon
Přispěvatelé: Couvet, Sandrine, 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 [CHU Trousseau] (Inserm 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), UF de Génétique chromosomique [CHU Trousseau], CHU Trousseau [APHP], Service de Génétique médicale [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP]
Rok vydání: 2021
Předmět:
MESH: Abnormalities
Multiple
MESH: Chromosome Deletion
[SDV]Life Sciences [q-bio]
MESH: Chromosomes
Human
Pair 2
Chromosomal translocation
Chromosomal rearrangement
postzygotic
[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Biology
MESH: Cervical Vertebrae
Germline
MESH: Intellectual Disability
MESH: Uniparental Disomy
Gene duplication
Genetics
medicine
MESH: In Situ Hybridization
Fluorescence
Genetics (clinical)
MESH: Humans
medicine.diagnostic_test
MESH: Genetic Predisposition to Disease
MESH: Scoliosis
Chromosome
Karyotype
MESH: Male
MESH: Translocation
Genetic
MESH: Siblings
[SDV] Life Sciences [q-bio]
MESH: Karyotyping
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Uniparental Isodisomy
rescue
unbalanced translocation
MESH: Chromosome Banding
MESH: Chromosomes
mosaic
MESH: Mosaicism
MESH: Kyphosis
MESH: Chromosomes
Human
Pair 11
MESH: Female
Fluorescence in situ hybridization
Zdroj: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2021, 185 (10), pp.3057-3061. ⟨10.1002/ajmg.a.62361⟩
ISSN: 1552-4833
1552-4825
DOI: 10.1002/ajmg.a.62361
Popis: 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.
Databáze: OpenAIRE
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