Balanced at First Sight, but in Reality out of Balance
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference12 articles.
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2. De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007 Dec;44(12):750–62.
3. Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, et al. Ten years follow up of a boy with a complex chromosomal rearrangement: going from a [{GT}] 5 to 15-breakpoint CCR. Am J Med Genet A. 2003 Apr;118A(3):235–40.
4. Kloosterman WP, Tavakoli-Yaraki M, van Roosmalen MJ, van Binsbergen E, Renkens I, Duran K, et al. Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms. Cell Rep. 2012 Jun;1(6):648–55.
5. Kurtas NE, Xumerle L, Giussani U, Pansa A, Cardarelli L, Bertini V, et al. Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: rule or exception? Mol Genet Genomic Med. 2019 Feb;7(2):e00496.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome;Scientific Reports;2023-08-10
2. A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome;2023-03-27
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