[Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing].

Abstract

OBJECTIVE To explore the genetic cause for a child with developmental delay. METHODS The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was analyzed with low-coverage massively parallel copy number variation sequencing (CNV-seq) and verified by single nucleotide polymorphism array (SNP-array). RESULTS The karyotype of the child was ascertained as 46,XX,r(15)(p13q26.3), while both parents showed a normal karyotype. CNV-seq and SNP-array have identified a de novo 15q26.2-q26.3 deletion in the child with a size of approximately 3.60 Mb. CONCLUSION The abnormal phenotype of the patient carrying the ring chromosome 15 may be attributed to the presence of the 15q26.2-q26.3 microdeletion. The deletion and haploinsufficiency of the IGF1R gene probably underlie the main clinical features of the patient.

DOI: 10.3760/cma.j.issn.1003-9406.2017.03.021

Cite this paper

@article{Pan2017DetectionOA, title={[Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing].}, author={Qiong Pan and Li Zhang and Fengting Zhang and Xin Jin and Yue Hu and Liyan Zhu and Longfei Cheng and Qigang Zhang and Ying Ning}, journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}, year={2017}, volume={34 3}, pages={406-410} }