Copy number changes and methylation patterns in an isodicentric and a ring chromosome of 15q11-q13: report of two cases and review of literature

Molecular Cytogenetics

Jiansheng Xie¹  Peining Li²  Qinghua Zhou³  Fuwei Luo¹  Zhiyong Xu¹  Weiqing Wu²  Qin Wang¹ 

[1] Shenzhen Maternity and Child Healthcare Hospital, 3012 Fuqiang Road, Shenzhen, Guangdong, China;Department of Genetics, Yale School of Medicine, New Haven, CT, USA;First Affiliated Hospital, Biomedical Translational Research Institute, Jinan University, Guangzhou, Guangdong, China

关键词: Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA);    Array comparative genomic hybridization (aCGH);    15q11-q13;    Ring chromosome;    Isodicentric chromosome;   

Others  :  1234921
DOI  :  10.1186/s13039-015-0198-4

 received in 2015-08-14, accepted in 2015-11-10,  发布年份 2015

【 摘 要 】

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.

Methods

Routine G-band karyotyping, fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH) analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) assay were performed on two Chinese patients with a sSMC(15).

Results

Patient 1 showed an isodicentric 15, idic(15)(q13), containing symmetrically two copies of a 7.7 Mb segment of the 15q11-q13 region by a BP3::BP3 fusion. Patient 2 showed a ring chromosome 15, r(15)(q13), with alternative one-copy and two-copy segments spanning a 12.3 Mb region. The defined methylation pattern indicated that the idic(15)(q13) and the r(15)(q13) were maternally derived.

Conclusions

Results from these two cases and other reported cases from literature indicated that combined karyotyping, aCGH and MS-MLPA analyses are effective to define the copy number changes and methylation patterns for sSMC(15)s in a clinical setting. The characterized genomic structure and epigenetic pattern of sSMC(15)s could lead to further gene expression profiling for better phenotype correlation.

【 授权许可】

   
2015 Wang et al.

【 图 表 】

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