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Jumping translocations, a novel finding in chronic lymphocytic leukaemia.
Miller CR, Stephens D, Ruppert AS, Racke F, McFaddin A, Breidenbach H, Lin HJ, Waller K, Bannerman T, Jones JA, Woyach JA, Andritsos LA, Maddocks K, Zhao W, Lozanski G, Flynn JM, Grever M, Byrd JC, Heerema NA. Miller CR, et al. Br J Haematol. 2015 Jul;170(2):200-7. doi: 10.1111/bjh.13422. Epub 2015 Apr 19. Br J Haematol. 2015. PMID: 25891862 Free PMC article.
The most commonly occurring breakpoint in these translocations was 17p11.2. Loss of TP53 was identified prior to or at the same time as JT in 23 of 26 patients (88%). ...JTs contribute to complex karyotypes and, in many cases, are involved in chromosomal rearrangeme …
The most commonly occurring breakpoint in these translocations was 17p11.2. Loss of TP53 was identified prior to or at the sam …
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Yuan B, et al. Hum Genet. 2016 Oct;135(10):1161-74. doi: 10.1007/s00439-016-1703-5. Epub 2016 Jul 7. Hum Genet. 2016. PMID: 27386852 Free PMC article.
Less frequently, nonrecurrent genomic rearrangements occur at this locus. Contiguous gene duplications encompassing both PMP22 and RAI1, i.e., PMP22-RAI1 duplications, have been investigated, and replication-based mechanisms rather than NAHR have been …
Less frequently, nonrecurrent genomic rearrangements occur at this locus. Contiguous gene duplications encompassing both PMP22 …
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Yuan B, et al. Am J Hum Genet. 2015 Nov 5;97(5):691-707. doi: 10.1016/j.ajhg.2015.10.003. Am J Hum Genet. 2015. PMID: 26544804 Free PMC article.
The genomic duplication associated with Potocki-Lupski syndrome (PTLS) maps in close proximity to the duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A). ...Our genomic analysis suggests replicative mechanisms as a predominant mechanism underlyi …
The genomic duplication associated with Potocki-Lupski syndrome (PTLS) maps in close proximity to the duplication associated w …
A Novel Variant Rearrangement of the Rare Aberration dic(17;20)(p11.2;q11.2) Characterized by Array-CGH as an Insertion in a Patient with Myelodysplastic Syndrome of Multilineage Dysplasia (MDS-MLD).
Vazmitsel MA, Grammatopoulou V, Yao J, Batanian JR. Vazmitsel MA, et al. Cytogenet Genome Res. 2020;160(1):22-28. doi: 10.1159/000506030. Epub 2020 Feb 5. Cytogenet Genome Res. 2020. PMID: 32018267
Based on FISH and array-CGH, the variant turns out to be an insertion of chromosome 17 (17p11.2-telomere 17) into chromosome 20 with breakpoints at 20q11.22 and 20q13.33. Based on conventional chromosome analysis and G-banding patterns, the region 17p11.2 …
Based on FISH and array-CGH, the variant turns out to be an insertion of chromosome 17 (17p11.2-telomere 17) into chromosome 2 …