Related Experiment Video
Updated: Feb 28, 2026
Detection of Copy Number Alterations Using Single Cell Sequencing
Published on: February 17, 2017
[Detection of a patient with ring chromosome 15 by low-coverage massively parallel copy number variation sequencing]
Qiong Pan1, Li Zhang, Fengting Zhang
1Key Laboratory of Clinical Genetics and Prenatal Diagnosis, Huaian Maternal and Child Health Care Hospital of Jiangsu Province, Huaian, Jiangsu 223002, China. jonespan@gmail.com.
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.
