Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature
详细信息 查看全文
- 作者：Qin Wang ; Weiqing Wu ; Zhiyong Xu ; Fuwei Luo ; Qinghua Zhou…
- 关键词：Isodicentric chromosome ; Ring chromosome ; 15q11 ; q13 ; Array comparative genomic hybridization (aCGH) ; Methylation ; specific multiplex ligation ; dependent probe amplification (MS ; MLPA)
- 刊名：Molecular Cytogenetics
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：8
- 期：1
- 全文大小：1,656 KB
- 刊物主题：Cytogenetics; Molecular Medicine;
- 出版者：BioMed Central
- ISSN：1755-8166
文摘
Background The low copy repeats (LCRs) in chromosome 15q11-q13 have been recognized as breakpoints (BP) for not only intrachromosomal deletions and duplications but also small supernumerary marker chromosomes 15, sSMC(15)s, in the forms of isodicentric chromosome or small ring chromosome. Further characterization of copy number changes and methylation patterns in these sSMC(15)s could lead to better understanding of their phenotypic consequences.