‘Deletion rescue’ by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome
Author:
Affiliation:
1. Department of Medical Genetics; Shodair Children's Hospital; Helena MT USA
2. Department of Pediatrics; Bozeman Deaconness Hospital; Bozeman MT USA
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference20 articles.
1. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study;Jacobsen;Hum Hered,1973
2. Jacobsen syndrome;Mattina;Orphanet J Rare Dis,2009
3. Distal 11q monosomy. The typical 11q monosomy syndrome is due to deletion of subband 11q24.1;Fryns;Clin Genet,1986
4. Clinical and molecular characterization of patients with distal 11q deletions;Penny;Am J Hum Genet,1995
5. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH;Tyson;Mol Cytogenet,2008
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4. Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings;American Journal of Medical Genetics Part A;2021-05-27
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