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Article

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

BMC medical genetics - 22 Jul 2016

Yao Hui, Yang Chuanchun, Huang Xiaoli, Yang Luhong, Zhao Wei, Yin Dan, Qin Yuan, Mu Feng, Liu Lin, Tian Ping, Liu Zhisheng, Yang Yun

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27448395
DOI: 10.1186/s12881-016-0307-1
PMCID: PMC4957311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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