Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings-Reference-Cited by-同舟云学术

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

Published:2021-05-27 Issue:10 Volume:185 Page:3057-3061
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Blanluet Maud¹^ORCID,Chantot‐Bastaraud Sandra²,Chambon Pascal¹,Cassinari Kévin¹,Vera Gabriella¹,Goldenberg Alice¹,Keren Boris³,Le Meur Nathalie¹,Hannequin Didier¹,Mace Bertrand¹,Siffroi Jean‐Pierre²,Frebourg Thierry¹,Nicolas Gaël¹^ORCID,Joly‐Helas Géraldine¹

Affiliation:

1. Normandie Univ, UNIROUEN, Inserm U1245, CHU Rouen, Department of Genetics and reference center for developmental disorders, FHU G4 Génomique, F‐76000 Rouen France

2. Department of Medical Genetics and Embryology Armand‐Trousseau Children Hospital, AP‐HP Paris France

3. Genetics Department La Pitié‐Salpêtrière Hospital, AP‐HP Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62361

Reference13 articles.

1. Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

2. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

3. Mitotic recombination and uniparental disomy in Beckwith–Wiedemann syndrome

4. Novel balanced chromosomal translocations in females with recurrent spontaneous abortions: Two case studies

5. Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

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