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BMC Med Genet. 2016 Jul 22;17(1):49. doi: 10.1186/s12881-016-0307-1.

Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.

Yao H1, Yang C2, Huang X1, Yang L1, Zhao W3,2, Yin D3,2, Qin Y1, Mu F3,2, Liu L3,2, Tian P1, Liu Z1, Yang Y4,5,6.

Author information

1
Wuhan Medical Care Center for Women and Children, Wuhan, 430015, China.
2
BGI-Shenzhen, Shenzhen, 518083, China.
3
BGI-Wuhan, Wuhan, 430075, China.
4
BGI-Wuhan, Wuhan, 430075, China. @genomics.cn.
5
BGI-Shenzhen, Shenzhen, 518083, China. @genomics.cn.
6
Department of Obstetrics and Gynecology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China. @genomics.cn.

Abstract

BACKGROUND:

Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the clinical spectrum varieties may heavily depend on the extent of the genomic deletion. The aim of this study is to identify the detailed breakpoints location and the deleted genes result from the r18.

CASE PRESENTATION:

Here we describe a detailed diagnosis of a seven-year-old Chinese girl with a ring chromosome 18 mutation by a high-throughput whole-genome low-coverage sequencing approach without karyotyping and other cytogenetic analysis. This method revealed two fragment heterozygous deletions of 18p and 18q, and further localized the detailed breakpoint sites and fusion, as well as the deleted genes.

CONCLUSIONS:

To our knowledge, this is the first report of a ring chromosome 18 patient in China analyzed by whole-genome low-coverage sequencing approach. Detailed breakpoints location and deleted genes identification help to estimate the risk of the disease in the future. The data and analysis here demonstrated the feasibility of next-generation sequencing technologies for chromosome structure variation including ring chromosome in an efficient and cost effective way.

KEYWORDS:

Detailed breakpoints; Detailed diagnosis; Ring chromosome; Whole-genome low-coverage sequencing

PMID:
27448395
PMCID:
PMC4957311
DOI:
10.1186/s12881-016-0307-1
[Indexed for MEDLINE]
Free PMC Article

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